Case#: male; age 44

DiseaseAssertion: Hypertrophic, restrictive, and dilated cardiomyopathy

FamilyInfo: The patient’s unaffected 6-year-old daughter was tested for the variant. His brother and parents were healthy

ParentalTesting: Parents refused genetic testing

CasePresentingHPOs: HP:0001639 HP:0001723 HP:0001644

CaseHPOFreeText: Hypertrophic cardiomyopathy; restrictive left-ventricular filling pattern; diastolic dysfunction

CaseNotHPOs: NR

CaseNotHPOFreeText: NR

CasePreviousTesting: NR

Genotyping Method: 25-gene Ion AmpliSeq panel with Ion PGM semiconductor sequencing; Sanger sequencing

FunctionalAnalysis: NR

Variant: TPM1 c.292G>A (p.Glu98Lys; p.E98K; rs730881131); missense variant; heterozygous

ClinVar: 1472862

CAID: CA392720843

gnomAD: NR