ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1970A>G (p.Gln657Arg) (rs1459883720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534112 SCV000624708 uncertain significance Hereditary nonpolyposis colon cancer 2018-07-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 657 of the MSH6 protein (p.Gln657Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the Universal Mutation Database (PMID: 23729658). ClinVar contains an entry for this variant (Variation ID: 455167). 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, 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.
Ambry Genetics RCV000569127 SCV000669925 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000569127 SCV000685243 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing

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