ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2179G>T (p.Ala727Ser)

dbSNP: rs104895026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812332 SCV000952643 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2020-01-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 126980). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 727 of the MSH2 protein (p.Ala727Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Harris Lab, University of Minnesota RCV000114841 SCV000148736 not provided not provided no assertion provided not provided

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