ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1685A>T (p.Glu562Val) (rs63750997)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686405 SCV000813923 uncertain significance Hereditary nonpolyposis colon cancer 2018-04-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 562 of the MSH2 protein (p.Glu562Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is present in population databases (rs63750997, ExAC 0.01%). This variant has been reported in a family affected with Lynch syndrome (PMID: 9048925). ClinVar contains an entry for this variant (Variation ID: 90747). Experimental studies have shown that this missense change does not disrupt protein function or expression (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.
Color RCV000774573 SCV000908313 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-14 criteria provided, single submitter clinical testing

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