ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1813G>C (p.Val605Leu) (rs730881777)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228247 SCV000284123 uncertain significance Lynch syndrome 2015-12-12 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 605 of the MSH2 protein (p.Val605Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs730881777, ExAC 0.009%) but has not been reported in the literature in individuals with a 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000774576 SCV000908318 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-24 criteria provided, single submitter clinical testing

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