ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.818G>A (p.Gly273Glu) (rs769610487)

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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 RCV000164196 SCV000214817 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000206680 SCV000260145 uncertain significance Hereditary nonpolyposis colon cancer 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 273 of the MSH6 protein (p.Gly273Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (rs769610487, no frequency data) and has not been reported in the literature. ClinVar contains an entry for this variant (RCV000164196). 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. It has been classified as a Variant of Uncertain Significance.

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