ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2582A>T (p.Gln861Leu) (rs1313098392)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547670 SCV000625395 uncertain significance Hereditary nonpolyposis colon cancer 2017-05-11 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 861 of the MSH2 protein (p.Gln861Leu). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in one individual in the Universal Mutation Database (PMID: 23729658). 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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