Figure 1. Pedigrees of 4 families with ES-HC and multiple mutations.
CaseMYH7: Gen II male, family 1
DiseaseAssertion: HCM
FamilyInfo: affected father, 1 affected sister, 1 affected brother with same MYH7 mutation
CasePreviousTesting: genetic testing for the 8 most frequently mutated sarcomeric genes associated with HC: MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, ACTC1, LAMP2, PRKAG2
GenotypingMethod: direct sequencing from an independent amplification product
Variant: NM_000257.4:c.4219G>A
ClinVar: 181249
CAID: CA014677
gnomAD: https://gnomad.broadinstitute.org/variant/14-23886846-C-T
0.0001384 Other