P150: ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of the Validity of Hypertrophic Cardiomyopathy Genes*

Hypertrophic cardiomyopathy (HCM) is an inherited heart disease characterized by left ventricular hypertrophy in the absence of loading conditions. It affects approximately 1 in 500 people. Targeted gene panel analysis identifies a pathogenic/likely pathogenic variant in ∼40% of individuals, with most variants identified in 8 definitive-evidence sarcomere genes. Here, we report clinical validity reappraisal of previously classified and new HCM genes using the ClinGen gene curation framework.