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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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>A was classified as likely pathogenic while c.353 + 6T>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>G, reverse transcription PCR (RT-PCR) was conducted with the mother’s peripheral blood. …”
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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. …”

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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Identification of Rare <i>LRP5</i> Variants in a Cohort of Males with Impaired Bone Mass by Maria Santa Rocca, Giovanni Minervini, Andrea Di Nisio, Maurizio Merico, Maria Bueno Marinas, Luca De Toni, Kalliopi Pilichou, Andrea Garolla, Carlo Foresta, Alberto Ferlin

“…Genetic analysis detected in eleven patients ten rare heterozygous variants within the <i>LRP5</i> gene, which were categorized as VUS (variant of uncertain significance), likely pathogenic and benign variants according to American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Novel pathogenic variants in KIT gene in three Chinese piebaldism patients by Chen Wang, Yingzi Zhang, Xuyun Hu, Lijuan Wang, Zhe Xu, Huan Xing

“…These variants were all novel and classified as pathogenic/likely pathogenic variants according to the interpretation guidelines of American College of Medical Genetics and Genomics and the Association for Molecular Pathology. …”
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Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred by Irum Badshah Saleem, Muhammad Shareef Masoud, Muhammad Qasim, Muhammad Ali, Zubair M. Ahmed

“…(Gln446Arg)) of <i>SLC26A4,</i> respectively, all the remaining identified variants were classified as “uncertain significance” based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity guidelines. …”
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Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interactio... by Laura Caleca, Paolo Radice

“…The guidelines for variant interpretation of the American College of Medical Genetics and Genomics along with the Association for Molecular Pathology (ACMG/AMP) state that “well-established” functional studies provide strong support of a pathogenic or benign impact (criteria PS3 and BS3, respectively) and can be used as evidence type to reach a final classification. …”
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Case Presentation: Functional Assessment of a CASR Variant Identified in a Patient with Hypercalcaemia Confirms Familial Hypocalciuric Hypercalcaemia in the Patient and a Sister Pr... by Bryan K. Ward, Kirsten A. Loffell, John P. Walsh, Warwick D. Howe, Suzanne J. Brown, Scott G. Wilson

“…Adopting American College of Medical Genetics-based guidelines, the variant was classified as 'Pathogenic (II)'. …”
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Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot by Michael J. Hartnett, Michele A. Lloyd-Puryear, Norma P. Tavakoli, Julia Wynn, Carrie L. Koval-Burt, Dorota Gruber, Tracy Trotter, Michele Caggana, Wendy K. Chung, Niki Armstrong, Amy M. Brower

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Characterization of Two Variants at Met 1 of the Human <i>LDLR</i> Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes by Rafael Graça, Rafael Fernandes, Ana Catarina Alves, Juliane Menezes, Luísa Romão, Mafalda Bourbon

“…The functional data of these variants allowed for an improved American College of Medical Genetics (ACMG) classification for both variants, which can allow a more personalized choice of the lipid-lowering treatment and dyslipidemia management, ultimately improving patients’ prognosis.…”
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APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants by Salvatore Daniele Bianco, Luca Parca, Francesco Petrizzelli, Tommaso Biagini, Agnese Giovannetti, Niccolò Liorni, Alessandro Napoli, Massimo Carella, Vincent Procaccio, Marie T. Lott, Shiping Zhang, Angelo Luigi Vescovi, Douglas C. Wallace, Viviana Caputo, Tommaso Mazza

“…Built on the joint consensus recommendations by the American College of Medical Genetics and Genomics/Association for Molecular Pathology, APOGEE 2 features an improved machine learning method and a curated training set for enhanced performance metrics. …”
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Clinical utility of genetic testing in Indian children with kidney diseases by Anshuman Saha, Shahenaz F. Kapadia, Kinnari B Vala, Himanshu V. Patel

“…The pathogenicity of the genetic variant was interpreted as per the American College of Medical Genetics classification. Results A total of 86 samples were sent for genetic testing from 76 index children, 8 parents and 2 fetuses. …”
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Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting by Francesca Cristofoli, Elisa Sorrentino, Giulia Guerri, Roberta Miotto, Roberta Romanelli, Alessandra Zulian, Stefano Cecchin, Stefano Paolacci, Jan Miertus, Matteo Bertelli, Paolo Enrico Maltese, Pietro Chiurazzi, Liborio Stuppia, Marco Castori, Giuseppe Marceddu

“…Many in-depth refinements followed the original 2015 American College of Medical Genetics (ACMG) guidelines to overcome subjective interpretation of criteria and classification inconsistencies. …”
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De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies by Nirmal Vadgama, Mohamed Ameen, Laksshman Sundaram, Sadhana Gaddam, Genomics England Research Consortium, Casey Gifford, Jamal Nasir, Ioannis Karakikes

“…Results In the trio analysis, a definite or probable genetic diagnosis was identified in 21 probands according to the American College of Medical Genetics guidelines. We identified novel DNVs in diagnostic-grade genes (RYR2, TNNT2, PTPN11, MYH7, LZR1, NKX2-5), and five cases harbouring a combination of prioritised variants, suggesting that oligogenic inheritance and genetic modifiers contribute to cardiomyopathies. …”
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4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome by Jeffrey Dennis Calhoun, Jonathan Gunti, Katie Angione, Elizabeth Geiger, Krista Eschbach, Garnett Smith, Charuta Joshi, Tamim Shaikh, Scott Demarest, Gemma Carvill

“…We analyzed single nucleotide variants (SNVs), small insertions and deletions (INDELs), and larger structural variants (SVs) from trio genomes and determined those that were likely contributory based on standardized American College of Medical Genetics (ACMG) criteria. RESULTS/ANTICIPATED RESULTS: Our initial analysis focused on variants in coding regions of known epilepsy-associated genes. …”
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Co-Inheritance of Pathogenic Variants in <i>PKD1</i> and <i>PKD2</i> Genes Determined by Parental Segregation and De Novo Origin: A Case Report by Ludovico Graziani, Stefania Zampatti, Miriam Lucia Carriero, Chiara Minotti, Cristina Peconi, Mario Bengala, Emiliano Giardina, Giuseppe Novelli

“…Next-generation sequencing (NGS)-based analysis of polycystic kidney disease (PKD)-associated genes in the proband revealed the presence of a pathogenic <i>PKD2</i> variant and a likely pathogenic variant in <i>PKD1</i>, according to the American College of Medical Genetics and Genomics (ACMG) criteria. …”
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