ClinVar

Description

Variant summary: MYH7 c.4762C>T (p.Arg1588Cys) results in a non-conservative amino acid change located in the Myosin tail domain (IPR002928) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251474 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4762C>T has been observed in one individual affected with nonsyndromic congenital heart disease (echo diagnosis: ventricular septal defect) (Ekure_2021). This report does not provide unequivocal conclusions about association of the variant with Cardiomyopathy. To our knowledge no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.