Case1: 59-year-old male

DiseaseAssertion: frequent premature ventricular contractions

FamilyInfo:Significant for dilated cardiomyopathy with multiple sudden cardiac deaths. His sister’s initial genetic testing panel was negative for pathogenic variants at that time

ParentalTesting:NR

CasePresentingHPOs: HP:0006682, HP:0025169, HP:0004751, HP:5210340

CaseHPOFreeText: Transthoracic echocardiogram (TTE) demonstrated a left ventricular (LV) ejection fraction (EF) of 20%-25% and an LV diastolic diameter of 6.6 cm. revealed bulky mediastinal adenopathy. A transbronchial biopsy of lung parenchyma showed noncaseating granulomas, and ultimately the patient was found to have pulmonary sarcoidosis.

CaseNotHPOs: NR

CaseNotHPOFreeText: NR

CasePreviousTesting:NR

Genotyping Method: NR

FunctionalAnalysis: NR

Variant:NM_001458.5(FLNC):c.4737+5G>A

ClinVar: 934656

CAID: CA1139660256

gnomAD: NR

AdditionalInfo: NR