ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1539G>A (p.Leu513=)

gnomAD frequency: 0.00001  dbSNP: rs777195739
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214600 SCV000278556 likely benign Hereditary cancer-predisposing syndrome 2023-05-16 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.
Invitae RCV000462815 SCV000559225 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000214600 SCV000689993 likely benign Hereditary cancer-predisposing syndrome 2017-06-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477771 SCV004220952 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000008 (2/251372 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect MSH2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
All of Us Research Program, National Institutes of Health RCV003998597 SCV004831658 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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