Significance of intronic and synonymous MYBPC3 gene variations in hypertrophic cardiomyopathy

The synonymous and intronic variations though are non-pathogenic, may still have a regulatory role in the splicing mechanism, resulting in stoichiometry changes mandatory in protein-protein interactions. Their effect may be further influenced by the modifier genes and environmental factors accounting for severe clinical manifestations and phenotypic heterogeneity. Hence, the present study describes the significance of intronic and synonymous variations of MYBPC3 gene in the phenotype.