ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2377C>A (p.Gln793Lys) (rs730881769)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222790 SCV000278415 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-01 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign)
Invitae RCV000529621 SCV000625375 uncertain significance Hereditary nonpolyposis colon cancer 2017-06-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 793 of the MSH2 protein (p.Gln793Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with an MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 233943). 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 and their clinical significance is uncertain. In summary, this variant has uncertain impact on MSH2 function. 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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