ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1916A>G (p.His639Arg) (rs587779116)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582698 SCV000690030 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-06 criteria provided, single submitter clinical testing
Invitae RCV000791733 SCV000930994 uncertain significance Hereditary nonpolyposis colon cancer 2018-11-19 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 639 of the MSH2 protein (p.His639Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals and families affected with hereditary nonpolyposis colorectal cancer (PMID: 9419403). ClinVar contains an entry for this variant (Variation ID: 90818). This variant has been reported to affect MSH2 protein function (PMID: 17720936, 22102614, 18822302). 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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