ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2367C>T (p.Ala789=)

gnomAD frequency: 0.00009  dbSNP: rs786202414
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165213 SCV000215926 likely benign Hereditary cancer-predisposing syndrome 2014-07-31 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 RCV000232343 SCV000284150 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001697096 SCV000525385 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000444221 SCV000601465 likely benign not specified 2017-06-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165213 SCV000903535 likely benign Hereditary cancer-predisposing syndrome 2017-12-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165213 SCV002534469 likely benign Hereditary cancer-predisposing syndrome 2022-02-04 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000444221 SCV002819637 likely benign not specified 2022-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539551 SCV004757444 likely benign MSH2-related disorder 2022-06-02 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 RCV003995405 SCV004825958 likely benign Lynch syndrome 2023-10-27 criteria provided, single submitter clinical testing

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