ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2614A>G (p.Ile872Val) (rs1060502939)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470821 SCV000551281 uncertain significance Hereditary nonpolyposis colon cancer 2018-08-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 872 of the MSH6 protein (p.Ile872Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an MSH6-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000491946 SCV000580373 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759137 SCV000888263 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing

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