ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.1385T>C (p.Val462Ala)

dbSNP: rs2142313049
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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 RCV002029225 SCV002305450 uncertain significance Myopathy, proximal, and ophthalmoplegia 2021-08-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has been observed in individual(s) with clinical features of MYH2-related conditions (Invitae). This sequence change replaces valine with alanine at codon 462 of the MYH2 protein (p.Val462Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine.

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