Genetic Variability of HUPRA Syndrome—A Case Report by Edita Petrosyan, Maria Molchanova, Berta Kushnir, Patritsia Povilaitite, Polina Tsygankova, Ekaterina Zakharova, Maria Proskura

“…The nucleotide substitution c.1295G > A (p.Arg432His) was detected in exon 14; according to the criteria of the American College of Medical Genetics (ACMG), this missense mutation is probably pathogenic. …”
Get full text

Opt‐in for secondary findings as part of diagnostic whole‐exome sequencing: Real‐life experience from an international diagnostic laboratory by Minna Brunfeldt, Milja Kaare, Inka Saarinen, Juha Koskenvuo, Helena Kääriäinen

“…Based on the American College of Medical Genetics (ACMG) recommendations for reporting secondary findings, BpG offered testing of specific actionable genes without additional charge for specimens submitted to WES diagnostics. …”
Get full text

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis. by Kimberly Gall, Emanuela Izzo, Eija H Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo

“…Variant interpretation was performed per American College of Medical Genetics and Genomics (ACMG) guidelines. …”
Get full text

Mutation survey in Taiwanese patients with Stickler syndrome by Faye Huang, Tzu-Jou Wang, Wan-Hua Cho, Yi-Hao Chen, Pei-Chang Wu, Hsi-Kung Kuo

“…Both variants were classified as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. CONCLUSION: Genetic mutations in COL2A1 were found in 25% of Taiwanese families with Stickler syndrome. …”
Get full text

Late-onset cobalamin C deficiency type in adult with cognitive and behavioral disturbances and significant cortical atrophy and cerebellar damage in the MRI: a case report by Miao Sun, Yingjie Dai

“…These variants were classified as likely pathogenic following the guidelines of the American College of Medical Genetics and Genomics (ACMG) and were verified using Sanger sequencing. …”
Get full text

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts by Jennifer L. Rossen, Brenda L. Bohnsack, Kevin X. Zhang, Alexander Ing, Andy Drackley, Valerie Castelluccio, Hanta Ralay-Ranaivo

“…Variants from initial testing underwent reclassification in accordance with ACMG-AMP (American College of Medical Genetics and Genomics—American Association of Molecular Pathology) 2015 or 2020 ACMG CNV guidelines. …”
Get full text

Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population by Junling Fu, Tong Wang, Mingmin Li, Xinhua Xiao

“…The pathogenicity of the mutations was determined based on the American College of Medical Genetics and Genomics, and the structure of wild‐type and mutant proteins was predicted using the web‐based tool, Phyre2. …”
Get full text

Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss by Nica Borgese, Andrés Guillén-Samander, Sara Francesca Colombo, Giulia Mancassola, Federica Di Berardino, Diego Zanetti, Paola Carrera

“…Structure predictions suggest a negative effect on protein stability of the latter variant, allowing its classification as likely pathogenic according to American College of Medical Genetics criteria. Thus, the presence in heterozygosis of two recessive alleles, which each cause syndromic deafness, may underlie digenic inheritance of the age-related non-syndromic hearing loss of the siblings, a hypothesis that is strengthened by the knowledge that the two genes are integrated in the same functional network, which underlies stereocilium development and organization. …”
Get full text

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country by Fizza Akbar, Raisa Saleh, Salman Kirmani, Prem Chand, Khairunnisa Mukhtiar, Farida Jan, Raman Kumar, Shahnaz Ibrahim

“…This increased to 32 % (n = 25) after clinical reclassification of some variants of uncertain significance (VUSs) based on American College of Medical Genetics and Genomics (ACMG) guidelines. …”
Get full text

Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study. by Yi-Ning Su, Chia-Cheng Hung, Shin-Yu Lin, Fang-Yi Chen, Jimmy P S Chern, Chris Tsai, Tai-Sheng Chang, Chih-Chao Yang, Hung Li, Hong-Nerng Ho, Chien-Nan Lee

“…<h4>Background</h4>Spinal muscular atrophy (SMA) is the most common neuromuscular autosomal recessive disorder. The American College of Medical Genetics has recently recommended routine carrier screening for SMA because of the high carrier frequency (1 in 25-50) as well as the severity of that genetic disease. …”
Get full text

Rare variant of TBL1XR1 in West syndrome: A case report by Yajun Shen, Meng Yuan, Huan Luo, Zuozhen Yang, Mengmeng Liang, Jing Gan

“…This variant was classified as likely pathogenic according to the ACMG (American College of Medical Genetics and Genomics) guidelines and was verified by Sanger sequencing. …”
Get full text

Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II by Sijia Zhu, Dongxue Ding, Jianhua Jiang, Meirong Liu, Liqiang Yu, Qi Fang

“…Whole-exome sequencing (WES), followed by bioinformatics and structural analyses, revealed two compound heterozygous missense mutations: c.1034A &gt; G (p.H345R) on exon 9 and c.1448C&gt;A (p.P483Q) on exon 11, which were classified as “likely pathogenic” according to American College of Medical Genetics and Genomics (ACMG). In conclusion, this study described the phenotype and genotype of a patient with late-onset GA II. …”
Get full text

Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy by Liu Zeyuan, Wang He, He Xiaoli, Tao Dan, Li Li

“…Two heterozygous pathogenic variants were detected by WES according to the American college of medical genetics and genomics guidelines, including NM_020366.4: c.2592T > G: p.Y864* and NM_020366.4: c.154C > T: p.R52* in RPGRIP1 located in exon 17 and exon 3, leading to termination codon, respectively. …”
Get full text

Identification of Medically Actionable Secondary Findings in the 1000 Genomes. by Emily Olfson, Catherine E Cottrell, Nicholas O Davidson, Christina A Gurnett, Jonathan W Heusel, Nathan O Stitziel, Li-Shiun Chen, Sarah Hartz, Rakesh Nagarajan, Nancy L Saccone, Laura J Bierut

“…The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. …”
Get full text

Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous popula... by Sara Aslam, Shabana, Mehboob Ahmed

“…The study aimed to identify ALL patients who meet the American College of Medical Genetics (ACMG) criteria and refer them for the genetic testing for HCSS as hereditary leukemia and hematologic malignancy syndrome, and to elucidate the significance of high consanguinity with the prevalence of inherited leukemia in Pakistani population. …”
Get full text

Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities by Zohreh Talebizadeh, Valerie Hu, Monir Shababi, Amy Brower

Get full text

MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations by Francesca Cristofoli, Muharrem Daja, Paolo Enrico Maltese, Giulia Guerri, Benedetta Tanzi, Roberta Miotto, Gabriele Bonetti, Jan Miertus, Pietro Chiurazzi, Liborio Stuppia, Valentina Gatta, Stefano Cecchin, Matteo Bertelli, Giuseppe Marceddu

“…We have developed MAGI-ACMG, a classification algorithm that allows the classification of sequencing variants (single nucleotide or small indels) according to the recommendations of the American College of Medical Genetics (ACMG) and the Association for Clinical Genomic Science (ACGS). …”
Get full text

GenOtoScope: Towards automating ACMG classification of variants associated with congenital hearing loss. by Damianos P Melidis, Christian Landgraf, Gunnar Schmidt, Anja Schöner-Heinisch, Sandra von Hardenberg, Anke Lesinski-Schiedat, Wolfgang Nejdl, Bernd Auber

“…To overcome this challenge, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) have introduced standards and guidelines for the interpretation of sequencing variants. …”
Get full text

Automated Clinical Practice Guideline Recommendations for Hereditary Cancer Risk Using Chatbots and Ontologies: System Description by Jordon B Ritchie, Lewis J Frey, Jean-Baptiste Lamy, Cecelia Bellcross, Heath Morrison, Joshua D Schiffman, Brandon M Welch

“…We used Owlready2 and Protégé to develop a lightweight, patient-centric clinical practice guideline domain ontology using hereditary cancer criteria from the American College of Medical Genetics and Genomics and the National Cancer Comprehensive Network. …”
Get full text

Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel <i>REEP6</i> Variants in Chinese Population by Lujia Zhang, Ya Li, Litao Qin, Yu Wu, Bo Lei

“…The three variants were classified as likely pathogenic by the American College of Medical Genetics and Genomics (ACMG). <i>REEP6</i> variant proteins c.268G>C and c.468delC in cultured cells destabilized the REEP6 protein and induced intracellular inclusions. …”
Get full text