ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.895C>T (p.Pro299Ser)

dbSNP: rs867991237
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765793 SCV001999445 uncertain significance not provided 2019-10-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 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
Sema4, Sema4 RCV002255688 SCV002532349 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-06 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV002544071 SCV002954932 uncertain significance Familial adenomatous polyposis 2 2024-03-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 327 of the MUTYH protein (p.Pro327Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1309624). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV002544071 SCV004839349 uncertain significance Familial adenomatous polyposis 2 2023-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002255688 SCV005037996 likely benign Hereditary cancer-predisposing syndrome 2023-11-16 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.

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