ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3101G>C (p.Arg1034Pro) (rs181727939)

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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 RCV000575225 SCV000664888 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
Invitae RCV000688425 SCV000816035 uncertain significance Hereditary nonpolyposis colon cancer 2018-03-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 1034 of the MSH6 protein (p.Arg1034Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs181727939, ExAC 0.007%). This variant has been reported in an individual affected with colorectal cancer (PMID: 17117178). ClinVar contains an entry for this variant (Variation ID: 480929). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759858 SCV000889480 uncertain significance not provided 2018-05-08 criteria provided, single submitter clinical testing

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