a missense mutation in MYH7 and a nonsense variant in INS-IGF2 (patient 1)
Case1: female, 15 years old at last clinical evaluation
DiseaseAssertion: LVH, HCM
FamilyInfo: n/a
CasePresentingHPOs: n/a
CaseHPOFreeText: cleft mitral valve during intrauterine life
CaseNotHPOs: n/a
CaseNotHPOFreeText: n/a
CasePreviousTesting: evaluated previously by using a DHPLC/Sanger test to search for causative mutations within the exons of 8 sarcomeric genes: MYH7, MYBPBC3, TNNI3, TNNT2, TPM1, ACTC, MYL2, and MYL3
GenotypingMethod: Next generation sequencing, High-Throughput Sequencing
Variant: NM_000257.4:c.976G>C
ClinVar: 43117
CAID: CA017063
gnomAD: https://gnomad.broadinstitute.org/variant/14-23899792-C-G
0.0001627 European (non-Finnish)