ClinVar Miner

Submissions for variant NM_001128425.2(MUTYH):c.29G>C (p.Arg10Pro)

dbSNP: rs755928199
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581823 SCV000690553 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001065926 SCV001230916 uncertain significance Familial adenomatous polyposis 2 2025-01-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 10 of the MUTYH protein (p.Arg10Pro). This variant is present in population databases (rs755928199, gnomAD 0.0009%). 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: 492030). 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.
Ambry Genetics RCV000581823 SCV002750750 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-29 criteria provided, single submitter clinical testing The p.R10P variant (also known as c.29G>C), located in coding exon 1 of the MUTYH gene, results from a G to C substitution at nucleotide position 29. The arginine at codon 10 is replaced by proline, an amino acid with dissimilar properties. This variant has been confirmed in trans with a MUTYH pathogenic variant in an individual with colon polyposis (Ambry internal data). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001065926 SCV004198947 uncertain significance Familial adenomatous polyposis 2 2023-05-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001065926 SCV004835815 uncertain significance Familial adenomatous polyposis 2 2023-09-05 criteria provided, single submitter clinical testing
GeneDx RCV005056244 SCV005689707 uncertain significance not provided 2024-08-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23108399)

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