Case#: II-9, female, 46 yrs

DiseaseAssertion: HCM

FamilyInfo: Yes, 2 siblings and niece have HCM

CasePresentingHPOs: chest tightness, palpitations (HP:0031352, HP:0001962)

CaseHPOFreeText: T flattened and inverted and left axis deviation (-48 degrees), 22mm MLVWT, 63% LVE F, 1.29 E/A ratio, LVOT-PG 4mm

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

CaseGenotypingMethod: sequencing, physical examination, ECG, 3D modeling, statistical analysis

MultipleGeneVariants:

(1) Variant: absent (MYH7- A934V)

ClinVar: N/A

CAID: CA389047003

gnomAD: absent

(2) Variant: NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)

ClinVar: 181244 https://www.ncbi.nlm.nih.gov/clinvar/variation/181244/

CAID: N/A

gnomAD: 0.00003266 South Asian https://gnomad.broadinstitute.org/variant/14-23887429-C-T