ClinVar Miner

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

dbSNP: rs755928199
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Total submissions: 5
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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
Invitae RCV001065926 SCV001230916 uncertain significance Familial adenomatous polyposis 2 2022-06-29 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). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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

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