Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exom... by Antonio Capalbo, Roberto Alonso Valero, Jorge Jimenez-Almazan, Pere Mir Pardo, Marco Fabiani, David Jiménez, Carlos Simon, Julio Martin Rodriguez

“…About 2.3% of participants showed at least one pathogenic variant for genes included in the updated American College of Medical Genetics and Genomics v2.0 list of secondary findings. …”
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Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report by Fatemeh Bitarafan, Mehrnoosh Khodaeian, Fatemeh Garrousi, Raziyeh Khalesi, Donya Ghazi Nader, Behnam Karimi, Reza Alibakhshi, Masoud Garshasbi

“…(Trp204Arg)) classified as a likely pathogenic variant according to the recommendation of the American College of Medical Genetics (ACMG). Co-segregation analysis was investigated using Sanger sequencing. …”
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Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities by Kimia Najafi, Zohreh Mehrjoo, Fariba Ardalani, Siavash Ghaderi-Sohi, Ariana Kariminejad, Roxana Kariminejad, Hossein Najmabadi

“…In 45% of cases, we were able to classify these variants as pathogenic or likely pathogenic, according to the American College of Medical Genetics and Genomics guidelines, while in the remainder, the variants were classified as of unknown significance. …”
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Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis by Ehsan Razmara, Homeyra Azimi, Amirreza Bitaraf, Mohammad Ali Daneshmand, Mohammad Galehdari, Maryam Dokhanchi, Elika Esmaeilzadeh‐Gharehdaghi, Masoud Garshasbi

“…Taken together, the novel nonsense CTSK variant meets the criteria of being likely pathogenic according to the American College of Medical Genetics and Genomics‐the Association for Molecular Pathology (ACMG‐AMP) variant interpretation guidelines.…”
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Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery by Fernanda A. Correa, Marilena Nakaguma, João L. O. Madeira, Mirian Y. Nishi, Milena G. Abrão, Alexander A. L. Jorge, Luciani R. Carvalho, Ivo J. P. Arnhold, Berenice B. Mendonça

“…We classified all reported PROP1 variants described to date according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) guidelines: 29 were pathogenic, 2 were likely pathogenic, and 2 were of unknown significance. …”
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The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer’s Disease by Dora Csaban, Klara Pentelenyi, Renata Toth-Bencsik, Anett Illes, Zoltan Grosz, Andras Gezsi, Maria Judit Molnar

“…In all subunits, a one–one rare variant was identified with unknown significance based on American College of Medical Genetics and Genomics (ACMG) classification. …”
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Pathogenic <i>APC</i> Variants in Latvian Familial Adenomatous Polyposis Patients by Zanda Daneberga, Dace Berzina, Viktors Borosenko, Zita Krumina, Linda Kokaine-Sapovalova, Andris Gardovskis, Egija Berga-Svitina, Janis Gardovskis, Edvins Miklasevics

“…All allelic variants of the <i>APC</i> gene were predicted to be pathogenic based on criteria according to the &#8220;Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology&#8221; (2015), four of them c.1586_1587insAT, c.2336delT, c.3066_3067insGA, and c.4303_4304insC, were considered novel. …”
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Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice by Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller

“…Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. …”
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Application value of whole exome sequencing in screening and identifying novel mutations of hypopharyngeal cancer by Jingwei Yao, Yubo Ding, Xiong Liu, Jialu Huang, Minghui Zhang, Yu Zhang, Yufan Lv, Zhuoyi Xie, Jianhong Zuo

“…In our research, whole-exome sequencing in 10 patients with hypopharyngeal cancer was performed to identify single nucleotide variations (SNVs) and insertions and deletions (INDELs). American College of Medical Genetics and Genomics (ACMG) guidelines were used to evaluate the pathogenicity of the selected variants. 8113 mutation sites in 5326 genes were identified after strict screening. …”
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Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing by Bing-Qing Yu, Zhao-Xiang Liu, Yin-Jie Gao, Xi Wang, Jiang-Feng Mao, Min Nie, Xue-Yan Wu

“…Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, thirty-three variants were classified as pathogenic or likely pathogenic variants and 21 variants were assessed as variants of uncertain significance. …”
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Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency by Shan Chen, Yuqing Xu, Yuqing Xu, Yeqing Qian, Yeqing Qian, Zhaohui Li, Minyue Dong, Minyue Dong

“…The mutation c.757 + 1G&gt;A was classified as likely pathogenic while c.353 + 6T&gt;G was classified as the variant of uncertain significance according to American College of Medical Genetics and Genomics (ACMG). To investigate the pathogenicity of RFX5: c.353 + 6T&gt;G, reverse transcription PCR (RT-PCR) was conducted with the mother’s peripheral blood. …”
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Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital by Rajeswari Swaminathan, Yungui Huang, Katherine Miller, Matthew Pastore, Sayaka Hashimoto, Theodora Jacobson, Danielle Mouhlas, Simon Lin

“…Although laboratories generate a summary clinical report, sharing raw genomic data with healthcare providers is equally important, both for secondary research studies as well as for a deeper analysis of the data itself, as seen by the efforts from organizations such as American College of Medical Genetics and Genomics and Global Alliance for Genomics and Health. …”
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GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation by Manshaei, Roozbeh, DeLong, Sean, Andric, Veronica, Joshi, Esha, Okello, John B. A., Dhir, Priya, Somerville, Cherith, Farncombe, Kirsten M., Kalbfleisch, Kelsey, Jobling, Rebekah K., Scherer, Stephen W., Kim, Raymond H.

“…It also uses the American College of Medical Genetics and Genomics (ACMG) criteria to categorize variants into five tiers of pathogenicity. …”
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A screening approach to identify clinically actionable variants causing congenital heart disease in exome data by Szot, J, Cuny, H, Blue, G, Humphreys, D, Ip, E, Harrison, K, Sholler, G, Giannoulatou, E, Leo, P, Duncan, E, Sparrow, D, Ho, J, Graham, R, Pachter, N, Chapman, G, Winlaw, D, Dunwoodie, S

“…First, we manually curated a high-confidence list of 90 genes known to cause CHD in humans, identified predicted damaging variants in genes on this list, and rated their pathogenicity using American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines.…”

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Exp... by Kelly, M, Caleshu, C, Morales, A, Buchan, J, Wolf, Z, Harrison, S, Cook, S, Dillon, M, Garcia, J, Haverfield, E, Jongbloed, J, Macaya, D, Manrai, A, Orland, K, Richard, G, Spoonamore, K, Thomas, M, Thomson, K, Vincent, L, Walsh, R, Watkins, H, Whiffin, N, Ingles, J, Van Tintelen, J, Semsarian, C, Ware, J, Hershberger, R, Funke, B

“…The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Molecular Pathology classification framework for specific genes and diseases. …”

Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation by Hairui Sun, Xiaowei Liu, Xiaoyan Hao, Xiaoxue Zhou, Jingyi Wang, Jiancheng Han, Mengmeng Liang, Hongjia Zhang, Yihua He

“…This KCNH2 missense mutation was classified as pathogenic according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines.Conclusion: We report the first prenatal case of KCNH2 mutation presenting with LVNC combined with bradycardia and second-degree 2:1 atrioventricular block. …”
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Increased diagnostic yield by reanalysis of data from a hearing loss gene panel by Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou, Zhiyu Peng

“…All variants listed on the original clinical reports were reinterpreted according to the standards and guidelines recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP). …”
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Spotlight on sudden arrhythmic death syndrome by Yuan D, Raju H

“…Although advancement in gene analysis such as next-generation sequencing has also allowed the application of &ldquo;molecular autopsy&rdquo; to identify pathogenic variants to establish the cause of death and enable cascade testing and risk stratification of family members, many of the genetic variants identified through this method have been classified as non-pathogenic since the establishment of standards and guidelines by the American College of Medical Genetics. Whilst majority of cases of SADS are still unexplained, there is increasing awareness and understanding of this syndrome allowing appropriate identification of surviving family members at risk and implementation of measures to prevent further premature death.Keywords: sudden cardiac death, sudden arrhythmic death syndrome, sudden unexplained death, unexplained cardiac death, molecular autopsy &nbsp;…”
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Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1 by Pilar Mur, Julen Viana-Errasti, Sandra García-Mulero, Lorena Magraner-Pardo, Inés G. Muñoz, Tirso Pons, Gabriel Capellá, Marta Pineda, Lidia Feliubadaló, Laura Valle

“…In response to an evident need in the field, we have developed gene-specific variant classification recommendations, based on the ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology) criteria, for the assessment of non-disruptive variants located in the sequence coding for the exonuclease domain of the polymerases. …”
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ANO3 Mutations in Chinese Dystonia: A Genetic Screening Study Using Next-Generation Sequencing by Shanglin Li, Lin Wang, Yingmai Yang, Jun Ma, Xinhua Wan

“…The effects of identified variants were classified according to the standards and guidelines of the American College of Medical Genetics and Genomics (ACMG).Results: Four different variants were identified in four unrelated dystonia patients, including three missense variants [c.1789G&gt;C (p.V600L), c.182A&gt;C (p.E61A), c.787A&gt;G (p.M263V)] and one splice site change (c.1714-3T&gt;C). …”
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