ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.719A>G (p.Asp240Gly) (rs878853822)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232965 SCV000284179 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-04-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 240 of the MSH2 protein (p.Asp240Gly). 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). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 237403). 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 and their clinical significance is uncertain. 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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