ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2447A>G (p.Gln816Arg) (rs768572053)

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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 RCV000221679 SCV000273308 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-23 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985803 SCV001134355 uncertain significance not provided 2019-03-26 criteria provided, single submitter clinical testing
Color RCV000221679 SCV001352951 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-24 criteria provided, single submitter clinical testing
Invitae RCV001236583 SCV001409315 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-11-12 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 816 of the MSH2 protein (p.Gln816Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs768572053, ExAC 0.03%). This variant has not been reported in the literature in individuals with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 229933). 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 tolerated, 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.

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