Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-03

AUTHORS

Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield, Jan D H Jongbloed, Daniela Macaya, Arjun Manrai, Kate Orland, Gabriele Richard, Katherine Spoonamore, Matthew Thomas, Kate Thomson, Lisa M Vincent, Roddy Walsh, Hugh Watkins, Nicola Whiffin, Jodie Ingles, J Peter van Tintelen, Christopher Semsarian, James S Ware, Ray Hershberger, Birgit Funke,

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. More... »

PAGES

351

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2017.218

DOI

http://dx.doi.org/10.1038/gim.2017.218

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100161480

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29300372


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