ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)

gnomAD frequency: 0.00001  dbSNP: rs779447213
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205243 SCV000259579 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567614 SCV000662294 likely benign Hereditary cancer-predisposing syndrome 2022-10-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000765669 SCV000897011 uncertain significance Lynch syndrome 1; Mismatch repair cancer syndrome 1; Muir-Torré syndrome 2018-10-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000567614 SCV001344420 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-15 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 601 of the MSH2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 3/251466 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002469065 SCV002765989 uncertain significance not specified 2022-11-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477681 SCV004220959 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000087 (3/34590 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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