ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1451T>C (p.Ile484Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003057923 SCV003353622 benign Hereditary nonpolyposis colorectal neoplasms 2023-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170945 SCV003855800 likely benign Hereditary cancer-predisposing syndrome 2022-11-30 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.
GeneDx RCV004775277 SCV005385029 uncertain significance not provided 2024-02-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Published functional studies demonstrate 6-thioguanine resistance similar to wildtype, suggesting intact mismatch repair function (PMID: 33357406); This variant is associated with the following publications: (PMID: 9774676, 18822302, 21120944, 33357406)

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