ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2640T>C (p.Gly880=)

gnomAD frequency: 0.00001  dbSNP: rs1368565489
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569433 SCV000662323 likely benign Hereditary cancer-predisposing syndrome 2016-11-21 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 RCV000569433 SCV001347931 likely benign Hereditary cancer-predisposing syndrome 2019-04-22 criteria provided, single submitter clinical testing
Invitae RCV001439849 SCV001642749 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001692208 SCV001908871 likely benign not provided 2021-06-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000569433 SCV002534497 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-28 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001692208 SCV004220990 likely benign not provided 2023-06-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530598 SCV004708431 likely benign MSH2-related disorder 2020-11-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV004000860 SCV004826575 likely benign Lynch syndrome 2023-10-27 criteria provided, single submitter clinical testing

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