ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3489A>T (p.Glu1163Asp) (rs531674673)

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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 RCV000131659 SCV000186686 uncertain significance Hereditary cancer-predisposing syndrome 2013-05-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000131659 SCV000690361 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-28 criteria provided, single submitter clinical testing
Invitae RCV000695890 SCV000824415 uncertain significance Hereditary nonpolyposis colon cancer 2018-12-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 1163 of the MSH6 protein (p.Glu1163Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs531674673, ExAC 0.009%). This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 142509). 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, 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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