P692: Interpreting for genetics: Reaching underserved populations by Myy Nguyen, Megan Lyon, Cynthia Roat

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P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency* by Shruthi Mohan, Renee Geck, Shawn Fayer, Roseann Donnelly, Mary Relling, Tom Vulliamy, Kelly Caudle, Amber Waddell, Essence Kendall, Gonzalo Domingo, Angelo Minucci, Benedikt Ley, Cindy Chu, Cyrine Haidar, Howard McLeod, Josef Prchal, Mahmoud Sirdah, Vimla Aggarwal, Weiying Jiang, Emily Kyle, Meredith Weaver, Michelle Whirl-Carrillo, Andrew Stergachis

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O10: Implications of two population-based genetic studies of breast cancer on hereditary cancer gene curation using the ClinGen gene-disease validity framework* by Julius Militante, Sheng-An Yang, Deborah Ritter, Sharon Plon

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Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy by Jay Ramchand, Mathew Wallis, Ivan Macciocca, Elly Lynch, Omar Farouque, Melissa Martyn, Dean Phelan, Belinda Chong, Siobhan Lockwood, Robert Weintraub, Tina Thompson, Alison Trainer, Dominica Zentner, Jitendra Vohra, Michael Chetrit, David L. Hare, Paul James

“…Variants were prioritized for curation in up to 247 genes and classified using American College of Medical Genetics and Genomics–based criteria. …”
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Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One) by Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A. Holm, Jennifer Taylor, Joseph J. Orsini, Luca Brunelli, Joanne Adelberg, Olaf Bodamer, Sarah Viall, Curt Scharfe, Melissa Wasserstein, Jin Y. Chen, Maria Escolar, Aaron Goldenberg, Kathryn Swoboda, Can Ficicioglu, Dieter Matern, Rachel Lee, Michael Watson

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Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene by Yuqing Xu, Yuqing Xu, Linyan Zhu, Yeqing Qian, Yeqing Qian, Minyue Dong, Minyue Dong

“…Q565*) was classified as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics by Jessie M. Cameron, Mayowa Azeez Osundiji, Rory J. Olson, Bukola A. Olarewaju, Andreas Schulze

“…Here, we incorporate American College of Medical Genetics and Genomics/Association for Molecular Pathology–developed guidelines for interpreting gene variants and in silico predictions to select allele frequencies for estimation of global birth prevalence of ARG1 deficiency. …”
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Clinical genome sequencing and population preferences for information about 'incidental' findings-From medically actionable genes (MAGs) to patient actionable genes (PAGs). by Thomas Ploug, Søren Holm

“…Such a policy has been suggested by the American College of Medical Genetics and Genomics (ACMG). We argue that ACMG's policy is overly paternalistic, and that an adequate policy must take into account population preferences. …”
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Somatic cancer variant curation and harmonization through consensus minimum variant level data by Deborah I. Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa J. Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb F. Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, Donald W. Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan, on behalf of the ClinGen Somatic Cancer Working Group

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Scope of genetic testing for inherited cardiovascular diseases in the clinical practice by Advithi Rangaraju, Ashwin Dalal

“…Since cardiomyopathies and channelopathies have become actionable because of new interventional therapies, this article highlights the importance and need of genetic testing for inherited cardiac disorders by practicing cardiologists, in-view of the American College of Medical Genetics, American College of Cardiology, European Heart Rhythm Association guidelines. …”
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A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea by Zhenbao Zhou, MD, Liying Zhao, MD, Yanqin Guo, MD, Jingyi Zhuang, MD, Nan Zhuo, MD, Han Chen, MD, Jieting Liu, MD, Libo Wang, MD

“…The variant was determined to be pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels by Jörg Schmidtke, Peter Philipp, Kathrin Rommel, Ralf Glaubitz, Jörg T. Epplen, Michael Krawczak

“…In addition, PanelDesign can be used to evaluate the contribution of different genes to a given disease following ACMG (American College of Medical Genetics) technical standards.…”
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Infant Alstrom syndrome diagnosed by a new gene mutation: a case report by Yujiao Ye, Xianmin Wang, Guixia Li, Xia Xiao, Xuehong Ji

“…Both mutations are classified as “category 1-pathogenic mutations” according to the American College of Medical Genetics and Genomics (ACMG) assessment. …”
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Whole-genome sequencing of the world's oldest people. by Hinco J Gierman, Kristen Fortney, Jared C Roach, Natalie S Coles, Hong Li, Gustavo Glusman, Glenn J Markov, Justin D Smith, Leroy Hood, L Stephen Coles, Stuart K Kim

“…The genome of one supercentenarian had a pathogenic mutation in DSC2, known to predispose to arrhythmogenic right ventricular cardiomyopathy, which is recommended to be reported to this individual as an incidental finding according to a recent position statement by the American College of Medical Genetics and Genomics. Even with this pathogenic mutation, the proband lived to over 110 years. …”
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Screening for CCNF Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort by Danyang Tian, Jiao Li, Lu Tang, Nan Zhang, Dongsheng Fan, Dongsheng Fan

“…According to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines for the interpretation of sequence variants, eight variants were judged to be pathogenic or likely pathogenic variants. …”
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Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report by Wei Guo, Yanguo Zhao, Shuwei Li, Jingqun Wang, Xiang Liu

“…According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant is considered pathogenic. …”
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Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation. by Zahra Ataei, Zahra Nouri, Farial Tavakoli, Mohammad Reza Pourreza, Sina Narrei, Mohammad Amin Tabatabaiefar

“…Variant interpretation was done based on the American College of Medical Genetics and Genomics (ACMG) guidelines. …”
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Diabetes mellitus – analysis of gene variants associated with subtypes of Maturity-Onset Diabetes of the Young (MODY) by Lise Bjørkhaug Gundersen, Ingvild Aukrust

“…Results: Based on the American College of Medical Genetics and Genomics (ACMG) recommendations concerning the evaluation and classification of gene variants, including functional studies of gene variants, tailored functional assays for MODY gene variants have been developed over the years. …”
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TAPES: A tool for assessment and prioritisation in exome studies. by Alexandre Xavier, Rodney J Scott, Bente A Talseth-Palmer

“…In an effort to identify pathogenic variants, reject benign variants and better predict variant effects in downstream analysis, the American College of Medical Genetics (ACMG) published a set of criteria in 2015. …”
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A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer. by Liu Yang, Guosheng Wang, Xinyi Zhao, Song Ye, Peng Shen, Weilin Wang, Shusen Zheng

“…WRN frameshift mutation is considered a potential pathogenic variation according to the guidelines of the American College of Medical Genetics. A novel WRN frameshift mutation (p.N1370Tfs*23) was identified in the three cancer patients and in the youngest unaffected daughter. …”
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