ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3787G>T (p.Val1263Leu)

dbSNP: rs375819633
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001876942 SCV002127895 uncertain significance Hypertrophic cardiomyopathy 14 2021-10-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MYH6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces valine with leucine at codon 1263 of the MYH6 protein (p.Val1263Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs375819633, ExAC 0.001%).

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