ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1424A>G (p.Asp475Gly) (rs1349765126)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550882 SCV000625265 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2017-02-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 475 of the MSH2 protein (p.Asp475Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an MSH2-related disease. 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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