ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2228C>T (rs63751155)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507559 SCV000601462 uncertain significance not specified 2017-02-14 criteria provided, single submitter clinical testing
Invitae RCV001219215 SCV001391141 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2020-05-05 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 743 of the MSH2 protein (p.Ser743Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with esophageal cancer (PMID: 31396961). ClinVar contains an entry for this variant (Variation ID: 439191). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Constitutional Genetics Lab,Leon Berard Cancer Center RCV001250042 SCV001423967 likely pathogenic Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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