ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2701C>A (p.Arg901Ser) (rs772514245)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine,University of Washington RCV000210111 SCV000266207 uncertain significance Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000217860 SCV000276264 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000693978 SCV000822402 uncertain significance Hereditary nonpolyposis colon cancer 2018-03-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 901 of the MSH6 protein (p.Arg901Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs772514245, ExAC 0.01%). This variant has been reported in an individual affected with colon cancer (PMID: 26845104). ClinVar contains an entry for this variant (Variation ID: 224582). 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.

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