ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1799C>T (p.Ala600Val) (rs63751236)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811456 SCV000951723 uncertain significance Hereditary nonpolyposis colon cancer 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 600 of the MSH2 protein (p.Ala600Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with Lynch syndrome (PMID: 22086974, 11920458). ClinVar contains an entry for this variant (Variation ID: 90789). Experimental studies in yeast have shown that this missense change disrupts MSH2 stability, blocking its interaction with binding partners and suppressing mismatch repair activity (PMID: 17720936). 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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