ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2039G>A (p.Arg680Gln) (rs1203462814)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702670 SCV000831533 uncertain significance Hereditary nonpolyposis colon cancer 2018-01-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 680 of the MSH2 protein (p.Arg680Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with rectal cancer (PMID: 28445943). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Mendelics RCV000708840 SCV000837847 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759108 SCV000888214 uncertain significance not provided 2018-07-11 criteria provided, single submitter clinical testing

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