ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1485A>G (p.Thr495=)

gnomAD frequency: 0.00001  dbSNP: rs767039383
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167099 SCV000217929 likely benign Hereditary cancer-predisposing syndrome 2014-12-04 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 RCV000167099 SCV001358993 likely benign Hereditary cancer-predisposing syndrome 2020-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001456175 SCV001659952 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-07-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004806147 SCV005429111 likely benign Lynch syndrome 2024-07-29 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005246747 SCV005898443 benign Lynch syndrome 1 2024-12-09 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361031 SCV005921052 likely benign Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 2021-03-02 criteria provided, single submitter clinical testing

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