ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2649T>G (p.Ile883Met) (rs768983827)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580301 SCV000685068 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-21 criteria provided, single submitter clinical testing
Invitae RCV000629841 SCV000750797 uncertain significance Hereditary nonpolyposis colon cancer 2018-01-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 883 of the MSH2 protein (p.Ile883Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs768983827, ExAC 0.01%). This variant has been reported in an individual affected with colorectal cancer (PMID: 19621678). 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: "Possibly 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.

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