ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1379T>C (p.Met460Thr) (rs1553361303)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567509 SCV000673868 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-14 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000567509 SCV000689981 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-06 criteria provided, single submitter clinical testing
Invitae RCV000685208 SCV000812681 uncertain significance Hereditary nonpolyposis colon cancer 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 460 of the MSH2 protein (p.Met460Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 485825). 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: "Benign"; Align-GVGD: "Class C25"). 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 RCV000759100 SCV000888205 uncertain significance not provided 2018-02-08 criteria provided, single submitter clinical testing

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