Case#:44-year-old woman , family 1 proband

DiseaseAssertion: Familial hypertrophic cardiomyopathy

FamilyInfo: Father, sister, and brother, died of sudden cardiac death around age 40

ParentalTesting: not reported

CasePresentingHPOs: HP:0031352, HP:0002094, HP:0005144 “Dyspnea; chest tightness, increased interventricular septum thickness”

CaseHPOFreeText: Symptoms after exercise, interventricular septum thickness 14.8 mm; left atrium 32 mm.

CaseNotHPOs: not reported

CaseNotHPOFreeText:not reported

CasePreviousTesting: no previous testing was reported

Genotyping Method: NGS. PCR, Sanger

FunctionalAnalysis: Putative pathogenic mutations were analysed computationally using the PolyPhen-2, SIFT, and MutationTaster

Variant: TNNI3 NM_000363.4:c.433C>G; p.Arg145Gly heterozygous exon 7 missense

ClinVar:12419

CAID: N/A

gnomAD: 19-55154146-G-C

AdditionalInfo: reported variant and a potential HCM hotspot