CaseII2: 19 year old male, Chinese

DiseaseAssertion: LVNC

FamilyInfo: Mother met diagnostic criteria for LVNC but was asymptomatic, cardiopath diagnosed brother suffered sudden death at age 13

CasePresentingHPOs: HP:0001962

"Palpitations"

CasePreviousTesting: Echocardiography

GenotypingMethod: Whole Exome Sequencing and mutation screening, SPRING used to prioritize the disease-causing nonsynonymous single nucleotide variants (SNVs) in exome sequencing, Sanger sequencing confirmed cosegregation of the mutations in pedigree

Variant: NM_000257.3:c.1492C>G

identified 13 SNVs with P < 0.05 (Table 1). MYH7 (c.C1492G), DSP (c.A2360G), RICTOR (c.C629T) and PRMT3 (c.T500C) all show P < 0.01 but only MYH7 (c.C1492G) reach significant criterion with P of 3.45E− 05 and q-value of 4.65E− 03.

ClinVar: not found

CAID: CA389050478

gnomAD: not found