ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.75C>T (p.Gly25=)

dbSNP: rs1465620610
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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 RCV000573034 SCV000669748 likely benign Hereditary cancer-predisposing syndrome 2016-01-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001035945 SCV001199285 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-11-25 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573034 SCV002526743 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-02 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV005248275 SCV005898681 benign Lynch syndrome 1 2024-12-02 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.

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