Case N3: Tunisia, Female, 28yo at onset, 30yo at study

DiseaseAssertion: hypertrophic cardiomyopathy

CasePresentingHPOs: HP:0100749 (chest pain)

CaseHPOFreeText: left ventricular septum (LVS) ≥15 mm, septum size = 25mm

FamilyInfo: Family history of HCM and 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:c.5639G>A

CAID: CA257807907, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA257807907

gnomAD: n/a

MultipleGeneVariants:

(1) MYBPC3 Variant:

Variant: NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)

ClinVar: 42792, https://www.ncbi.nlm.nih.gov/clinvar/variation/42792/

gnomAD: 0.00001656, https://gnomad.broadinstitute.org/variant/11-47369975-C-T