ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1167A>G (p.Arg389=)

dbSNP: rs2104439470
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001544552 SCV001763707 likely benign not provided 2019-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071978 SCV002451763 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-08-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039262 SCV005033530 likely benign Hereditary cancer-predisposing syndrome 2024-01-29 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.
Myriad Genetics, Inc. RCV005247281 SCV005898932 benign Lynch syndrome 1 2024-12-06 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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