ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.5180C>T (p.Thr1727Ile)

dbSNP: rs750223323
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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 RCV001300625 SCV001489772 uncertain significance Myopathy, proximal, and ophthalmoplegia 2020-09-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MYH2-related conditions. This sequence change replaces threonine with isoleucine at codon 1727 of the MYH2 protein (p.Thr1727Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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.

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