ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1761C>G (p.Gly587=)

dbSNP: rs920449426
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424515 SCV000520225 likely benign not specified 2015-10-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000557995 SCV000625307 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013070 SCV001173609 likely benign Hereditary cancer-predisposing syndrome 2018-02-09 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.
Color Diagnostics, LLC DBA Color Health RCV001013070 SCV001352053 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-09 criteria provided, single submitter clinical testing This variant is a synonymous variant in exon 12 of the MSH2 gene. 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 1/251310 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.
All of Us Research Program, National Institutes of Health RCV003996064 SCV004827266 uncertain significance Lynch syndrome 2023-08-08 criteria provided, single submitter clinical testing This variant is a synonymous variant in exon 12 of the MSH2 gene. 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 1/251310 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.

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