ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1217G>T (p.Arg406Leu) (rs146567853)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580175 SCV000684916 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-02 criteria provided, single submitter clinical testing
Invitae RCV000696098 SCV000824645 uncertain significance Hereditary nonpolyposis colon cancer 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 406 of the MSH2 protein (p.Arg406Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. 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 C35"). 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 RCV000580175 SCV001170566 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-14 criteria provided, single submitter clinical testing Insufficient evidence

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