ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3142C>G (p.Gln1048Glu) (rs200492211)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200624 SCV000254305 uncertain significance Lynch syndrome 2015-06-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1048 of the MSH6 protein (p.Gln1048Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant has not been published in the literature and is present in population databases (rs200492211, 0.04%). General algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) and an algorithm developed specifically for the MSH6 gene (PMID: 23621914) all suggest that this missense change is likely to be tolerated, although 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. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000573297 SCV000662387 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-20 criteria provided, single submitter clinical testing Insufficient evidence

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