Case12:

DiseaseAssertion: Dilated cardiomyopathy

FamilyInfo: 2 family members tested, 1 family member tested positive for cardiomyopathy

CasePresentingHPOs: HP:0001644

"Dilated 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 dilated cardiomyopathy (DCM) was suspected, the six sarcomere genes were sequenced along with LMNA and SCN5A.

GenotypingMethod: Sanger sequencing

Variant: NM_000257.4:c.2945T>C

ClinVar: 42941

CAID: CA013227

gnomAD: https://gnomad.broadinstitute.org/variant/14-23892910-A-G

Total Allele Frequency: 0.0008484

European (non-Finnish): 0.001416