ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2525A>T (p.Glu842Val) (rs373393954)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204953 SCV000261067 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 842 of the MSH2 protein (p.Glu842Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 220488). Algorithms developed to predict the effect of missense changes on protein structure and function 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.
Ambry Genetics RCV000565136 SCV000662228 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-13 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000565136 SCV000685050 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-12 criteria provided, single submitter clinical testing
Counsyl RCV000662576 SCV000785191 uncertain significance Lynch syndrome I 2017-05-25 criteria provided, single submitter clinical testing

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