CaseR147S: 52 year old male

DiseaseAssertion: HCM

FamilyInfo: son was also diagnosed with HCM, but his younger daughter and granddaughter were genotype positive–phenotype negative.

CaseHPOFreeText: asymmetric septal hypertrophy (ASH) with mid LV obstruction

CasePreviousTesting: systematic mutation screening of eight sarcomeric genes: (MYH7), (MYBPC3), (TNNT2), (TNNI3), (MYL2), (MYL3), (TPM1), and (ACTC), using direct DNA sequencing

GenotypingMethod: Genomic DNA was isolated from the leukocytes of the peripheral blood. Polymerase chain reaction was used to amplify the exons and flanking intronic bases of the eight genes, including MYH7, MYBPC3, TNNT2, TNNI3, MYL2, and MYL3. When no mutation was found, analysis of the TPM1 and ACTC genes was performed.

Variant: NM_000257.4:c.441G>C

ClinVar: 643664

CAID: CA389052814

gnomAD: not found