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rs397515963(G;G)

From SNPedia
(Redirected from Rs397515963(GT;GT))

Likely severe cardiomyopathy
Is agenotype
ofrs397515963
GeneMYBPC3
Chromosome11
Position47,337,729
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 7 familial hypertrophic cardiomyopathy mutation
(G;G) 8 Likely severe cardiomyopathy

One dominant pathogenic mutation is bad. Two is considered to be worse. One recorded case of a child born with homozygosity for the c.2373dup variant resulted in cardiomegaly and death at 12 weeks. In contrast to heterozygous pathogenic mutations, homozygous or compound heterozygous truncating pathogenic MYBPC3 mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction and septal defects in approximately 60% of patients.[PMID 25335496OA-icon.png]