LO8 Yes MYBPC3 16 c.1624G>C Glu542Gln MISSENSE/SPLICING known/pathogenic rs121909374 yes 353 188 TNNI3 6 c.385C>G Thr128Ser MISSENSE new/likely benign 400 204
Case#: L08
DiseaseAssertion: Late onset hypertrophic cardiomyopathy
FamilyInfo: Familiarity case reported as "yes"
ParentalTesting: Not reported
CasePresentingHPOs: HP:0001639
CaseHPOFreeText: Not reported
CaseNotHPOs: Not reported
CaseNotHPOFreeText: Not reported
CasePreviousTesting: Not reported
Genotyping Method: Next Generation Sequencing
FunctionalAnalysis: Not reported
Variant: c.1624G>C (Glu542Gln), heterozygous, pathogenic. c.385C>G (Thr128Ser) heterozygous, likely benign.
ClinVar: Not found
CAID: CA407440771 (MYBPC3 CAID not found)
gnomAD: Not found
AdditionalInfo: L08 has two variants. MYBPC3 variant missense/splicing, known pathogenic; Allele coverage 188. TNNI3 variant Missense, new/likely benign; Allele coverage 400.