Submissions for variant NM_000251.2(MSH2):c.2105T>G (p.Val702Gly) (rs587779137)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000629808	SCV000750764	uncertain significance	Hereditary nonpolyposis colon cancer	2017-09-01	criteria provided, single submitter	clinical testing	This sequence change replaces valine with glycine at codon 702 of the MSH2 protein (p.Val702Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with Lynch syndrome-associated cancer or colorectal polyps (PMID: 25980754). ClinVar contains an entry for this variant (Variation ID: 90887). 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.
Color	RCV001190856	SCV001358453	uncertain significance	Hereditary cancer-predisposing syndrome	2019-04-18	criteria provided, single submitter	clinical testing

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