CaseBII-1: Male, 23 years diagnosis, China, Asian

DiseaseAssertion: Hypertrophic Cardiomyopathy

FamilyInfo: No family history, pedigree provided

CasePresentingHPOs: HP:0001639, HP:0100749 (Hypertrophic cardiomyopathy, Chest pain)

HPOsFreeText: Interventricular septal thickness at 15.6 mm, Left ventricular posterior wall thickness at 12.1 mm

CaseNotHPOs: N/A

NotHPOsFreeText: N/A

CaseAddInfo: Parents tested negative for variant, therefore it is asserted as de novo

CasePreviousTesting: See list of sequenced genes

CaseGenotypingMethod: Genomic DNA was isolated from whole blood of all patients and controls. Whole coding exons and exon-intron boundaries of the 19 HCM-related genes listed above were amplified and sequenced on Ion Torrent PGM. These variants were then filtered for pathogenicity and compared to the controls. Any mutations found were confirmed by conventional dideoxy sequencing and Sanger sequencing.

Variant: NM_000257.3:c.2572C>T (p.Arg858Cys)

ClinVar: 164324 https://www.ncbi.nlm.nih.gov/clinvar/variation/164324/

gnomAD: Not in gnomAD