ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.188T>A (p.Val63Glu)

dbSNP: rs1558452054
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759103 SCV000888209 uncertain significance not provided 2018-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092186 SCV005732896 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2024-09-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 63 of the MSH2 protein (p.Val63Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with suspected Lynch syndrome (PMID: 26951660). ClinVar contains an entry for this variant (Variation ID: 619692). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MSH2 protein function. Experimental studies have shown that this missense change affects MSH2 function (PMID: 26951660). 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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