ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1048C>G (p.Leu350Val) (rs771126636)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567679 SCV000662343 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000694172 SCV000822603 uncertain significance Hereditary nonpolyposis colon cancer 2018-06-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 350 of the MSH2 protein (p.Leu350Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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: 479855). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759093 SCV000888195 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing

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