ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1764T>C (p.Tyr588=)

gnomAD frequency: 0.00002  dbSNP: rs63750844
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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 RCV000167352 SCV000218204 likely benign Hereditary cancer-predisposing syndrome 2014-12-23 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 RCV000167352 SCV001354537 likely benign Hereditary cancer-predisposing syndrome 2019-02-22 criteria provided, single submitter clinical testing
Invitae RCV001408165 SCV001610156 likely benign Hereditary nonpolyposis colorectal neoplasms 2021-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422059 SCV004146071 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing MSH2: BP4, BP7
All of Us Research Program, National Institutes of Health RCV003995586 SCV004827278 likely benign Lynch syndrome 2023-05-16 criteria provided, single submitter clinical testing

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