Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

By A. Alfares, M. Kelly, G. McDermott, Birgit Funke, Matthew S. Lebo, S. Baxter, Jun Shen, H. Mclaughlin, Eugene Clark, L. Babb and 7 more. 2015

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2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. (2019, background): “Variants in MYBPC3 account for approximately 50% of all genotyped HCM cases, with most being loss-of-function variants, whereas missense variants in MYH7 account for 30% of cases.(346,347) Other genes, such as TNNT2, TNNI3, TPM1, ACTC1, MYL2 and MYL3, account for 5% of HCM cases each.”
Adaptation and Validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel (2018, unknown): “MYH7 is the second most common inherited cause of HCM and third most common inherited cause of DCM, primarily due to missense variants that are dominantly inherited, though de novo variants have been reported 14,15 .”
Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. (2017, methodology): “(Table 2) Genetic testing for HCM detects pathogenic variants in genes known to cause phenocopy conditions in ≈3% of the tested individuals.(56) Identification of the latter has important implications, because their natural history and treatment differ from HCM and from one another.”