CaseR858C: 44 year old (text states male, pedigree states female)

DiseaseAssertion: HCM

FamilyInfo: No family members manifested sudden death, lethal arrhythmia, LVOT obstruction, or severe heart failure.

One family member also carried double mutations

CaseHPOFreeText: greater LV hypertrophy than his family members who carried a single mutation

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

MultipleGeneVariants:

VariantMYH7: NM_000257.4:c.2572C>T

ClinVar: 164324

CAID: CA012656

gnomAD: https://gnomad.broadinstitute.org/variant/14-23894085-G-A

0.00006152 African

VariantTNNT2: NM_001001430.3:c.857G>A

ClinVar: 43677

CAID: CA005304

gnomAD: https://gnomad.broadinstitute.org/variant/1-201328348-C-T

0.0008699 East Asian