ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.460G>A (p.Ala154Thr)

dbSNP: rs759712763
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568245 SCV000664855 likely benign Hereditary cancer-predisposing syndrome 2018-02-22 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 RCV000630061 SCV000751017 benign Hereditary nonpolyposis colorectal neoplasms 2024-12-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000568245 SCV000903218 likely benign Hereditary cancer-predisposing syndrome 2015-06-02 criteria provided, single submitter clinical testing
GeneDx RCV001584374 SCV001813269 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
All of Us Research Program, National Institutes of Health RCV004000906 SCV004830321 likely benign Lynch syndrome 2023-02-24 criteria provided, single submitter clinical testing

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