ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2083G>C (p.Val695Leu) (rs772491283)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000679302 SCV000806022 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014370 SCV001175068 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-02 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV001226997 SCV001399331 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 695 of the MSH2 protein (p.Val695Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs772491283, ExAC 0.009%). This variant has not been reported in the literature in individuals with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 560788). 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.

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