Case16:

DiseaseAssertion: hypertrophic cardiomyopathy

FamilyInfo: 4 family members tested, 1 family member tested positive for cardiomyopathy

CasePresentingHPOs: HP:0001639

"hypertrophic cardiomyopathy"

CasePreviousTesting: If there was a normal heart at autopsy, KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 were sequenced. If death occurred during exertion, CPVT was considered and RYR2 sequenced. If these tests were negative and there was a family history of sudden death, PKP2, DSC2, DSG and DSP2 were sequenced. If hypertrophic cardiomyopathy (HCM) was suspected, the sarcomere genes MYPBC3, MYH7, TPM1, MYL2, TNNI3, and TNNT2 were sequenced.

GenotypingMethod: Sanger sequencing

Variant: NM_000257.4:c.3134G>T

ClinVar: 42948

CAID: CA013375

gnomAD: https://gnomad.broadinstitute.org/variant/14-23891500-C-A

Total Allele Frequency: 0.00001591

European (non-Finnish): 0.00003517