ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1248T>C (p.Asn416=)

gnomAD frequency: 0.00001  dbSNP: rs786201156
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162787 SCV000213265 likely benign Hereditary cancer-predisposing syndrome 2017-07-14 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 RCV000871400 SCV001013056 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-07-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162787 SCV001348267 likely benign Hereditary cancer-predisposing syndrome 2019-02-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995218 SCV004832690 likely benign Lynch syndrome 2023-06-28 criteria provided, single submitter clinical testing

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