Case#: 38 year old woman

DiseaseAssertion: Hypertrophic cardiomyopathy (HCM)

FamilyInfo: Father and one brother had HCM, no sudden deaths reported in family

ParentalTesting: Father carried the same heterozygous variant

CasePresentingHPOs: HP:0001962, HP:0031352 “palpitation and chest distress”

CaseHPOFreeText: myocardial fibrosis

CaseNotHPOs: N/A

CaseNotHPOFreeText: Unremarkable

CasePreviousTesting: N/A

Genotyping Method:PCR

FunctionalAnalysis: N/A

Variant: TNNI3 heterozygous c.235C>T (p.Arg79Cys)

ClinVar: Variation ID: 43367

CAID:N/A

gnomAD:N/A

AdditionalInfo: authors describe the variant as novel