ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2105T>A (p.Val702Glu) (rs587779137)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491379 SCV000580649 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-21 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Color RCV000491379 SCV001345491 likely pathogenic Hereditary cancer-predisposing syndrome 2020-03-10 criteria provided, single submitter clinical testing
Invitae RCV001215708 SCV001387467 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-04-24 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 702 of the MSH2 protein (p.Val702Glu). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glutamic acid. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 428567). This variant has been reported to affect MSH2 protein function (PMID: 23690608). 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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