ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1440A>G (p.Glu480=)

gnomAD frequency: 0.00001  dbSNP: rs138049198
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078541 SCV000625266 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-08-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570348 SCV000662306 likely benign Hereditary cancer-predisposing syndrome 2016-12-21 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 RCV000570348 SCV000689988 likely benign Hereditary cancer-predisposing syndrome 2016-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000679291 SCV000805999 likely benign not provided 2017-02-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003735 SCV004833374 likely benign Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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