Case N16: Tunisia, Female, 72yo at onset, 76yo at study

DiseaseAssertion: hypertrophic cardiomyopathy

CasePresentingHPOs: HP:0100749 (chest pain)

CaseHPOFreeText: left ventricular septum (LVS) ≥15 mm, septum size = 18mm

FamilyInfo: family history sudden cardiac death

CasePreviousTesting: Full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), Additional testing (FLNC, TNNC1), electrocardiogram, echocardiography

CaseGenotypingMethod: PCR, Next-generation sequencing, identified variants confirmed via Sanger Sequencing

Variant: NM_000257.3(MYH7):c.4909G>A (p.Ala1637Thr)

ClinVar: 43044, https://www.ncbi.nlm.nih.gov/clinvar/variation/43044/

gnomAD: 0.00008840, https://gnomad.broadinstitute.org/variant/14-23885257-C-T