||Familial Hypertrophic Cardiomyopathy
||Familial hypertrophic cardiomyopathy (possible)
||common in clinvar
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685].
[PMID 27483260] A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
[PMID 27600940] Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
[PMID 25740977] A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.
[PMID 24704860] Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.
[PMID 21302287] Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
[PMID 15519027]Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.