ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.92C>G (p.Thr31Ser) (rs746635262)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500023 SCV000592450 likely benign not specified 2013-01-03 criteria provided, single submitter clinical testing
Invitae RCV000230155 SCV000284195 uncertain significance Lynch syndrome 2016-03-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 31 of the MSH2 protein (p.Thr31Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature, but has been observed in individuals affected with breast and endometrial cancer in the Invitae database. 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 variant is a rare missense change that is not predicted to affect protein function. While it is absent from the population and observed in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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