ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 190 papers, 1 of them a synthesis that pooled it.
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Who cites it
190 citing papers in PubMed, 1 synthesis or guideline pooled it, 363 citations in OpenAlex.
- Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.Genome medicine · 2019Pooled it
- Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial.Journal of genetic counseling · 2023Trial
- Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy.European journal of human genetics : EJHG · 2026Article
- Investigation of plasma-derived extracellular vesicles in hypertrophic cardiomyopathy patients.iScience · 2026Article
- Programmed ventricular stimulation for risk stratification in symptomatic athletes with nonischemic left ventricular scar and preserved ejection fraction.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- AAVC: An automated framework for high-accuracy ACMG-based variant classification.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.Circulation · 2026Article
- Unlocking the Regulatory Genome: Interpreting the Clinical Impact of Noncoding Variants in Genetic Cardiomyopathies.Circulation. Genomic and precision medicine · 2026Review
- Isolated posterior mitral leaflet elongation as a rare mechanism of systolic anterior motion in hypertrophic cardiomyopathy: a case report of successful treatment with mavacamten.European heart journal. Case reports · 2026Article
- Cardiovascular Genetic Epidemiology in the Genome-Wide Era: From Association Discovery to Mechanistic Dissection and Clinical Translation.Cardiovascular drugs and therapy · 2026Review
- Optimising POU3F4 variant interpretation through gene-specific evidence in X-linked hearing loss.EBioMedicine · 2026Article
- Evaluation of genetic-molecular causes of out-of-hospital cardiac arrest - from patients to families: the GenetiCA study.Resuscitation plus · 2026Article
- Article
- Developing a Replicable Cardiogenetic Care Model: Insights from the Saguenay-Lac-Saint-Jean Founder Population.Journal of community genetics · 2026Article
- Article
- Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines.Human mutation · 2026Article
- Cardiovascular Health and Outcomes in Carriers With Genetic Variants of Hypertrophic Cardiomyopathy.Mayo Clinic proceedings · 2026Article
- Article
- Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.Journal of the American Heart Association · 2025Article
130 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors at 17 institutions in 4 countries.
Funding
Abstract
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. 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. The Cardiomyopathy Expert Panel selected MYH7, a key contributor to inherited cardiomyopathies, as a pilot gene to develop a broadly applicable approach.MethodsExpert revisions were tested with 60 variants using a structured double review by pairs of clinical and diagnostic laboratory experts. Final consensus rules were established via iterative discussions.ResultsAdjustments represented disease-/gene-informed specifications (12) or strength adjustments of existing rules (5). Nine rules were deemed not applicable. Key specifications included quantitative frameworks for minor allele frequency thresholds, the use of segregation data, and a semiquantitative approach to counting multiple independent variant occurrences where fully controlled case-control studies are lacking. Initial inter-expert classification concordance was 93%. Internal data from participating diagnostic laboratories changed the classification of 20% of the variants (n = 12), highlighting the critical importance of data sharing.ConclusionThese adapted rules provide increased specificity for use in MYH7-associated disorders in combination with expert review and clinical judgment and serve as a stepping stone for genes and disorders with similar genetic and clinical characteristics.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.