Patient #1: family history of a severe HCM patient carrying both thin (S215L in TPM1) and thick (D896N and E525K in MYH7) filament mutations
CaseIII:2: 44 year old male, South Asian
DiseaseAssertion: HCM, septal hypertrophic obstructive cardiomyopathy
FamilyInfo: family history of two sudden cardiac deaths at ages 35 and 19, and three family members with septal hypertrophic obstructive cardiomyopathy
CasePresentingHPOs: HP:0001279, HP:0002094, HP:0001962
"Syncope, Dyspnea, Palpitations"
CasePreviousTesting: screened sarcomeric thin filament protein gene, α-tropomyosin (TPM1), screening of seven other sarcomeric genes: MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, and ACTC
GenotypingMethod: sequences covering all the exons and exon–intron boundaries of TPM1 and seven other sarcomeric genes (MYH7, MYBPC3, TNNT2, TTN, TNNI3, MYL2, MYL3, and ACTC) were synthesized
MultipleGeneVariants:
VariantMYH7: NM_000257.4:c.2686G>A
ClinVar: 132908
CAID: CA012857
gnomAD: not found
VariantMYH7: NP_000248.2:p.Ile524Lys
ClinVar: not found
CAID: valid allele but not present in the registry
gnomAD: not found
VariantTPM1: NM_000366.6:c.644C>T
ClinVar: 31883
CAID: CA018243
gnomAD: https://gnomad.broadinstitute.org/variant/15-63354418-C-T
0.000008806 European (non-Finnish)