ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu)

dbSNP: rs147718169
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164277 SCV000214903 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-13 criteria provided, single submitter clinical testing The p.V329L variant (also known as c.985G>T), located in coding exon 11 of the MUTYH gene, results from a G to T substitution at nucleotide position 985. The valine at codon 329 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000541072 SCV000639370 uncertain significance Familial adenomatous polyposis 2 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 329 of the MUTYH protein (p.Val329Leu). 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: 184935). 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000604526 SCV000731461 uncertain significance not specified 2017-04-03 criteria provided, single submitter clinical testing The p.Val329Leu variant in MUTYH has not been previously reported in individuals with MUTYH-associated cancers, but has been reported in ClinVar (Variation ID 1 84935). This variant was absent from large population studies. Computational pre diction tools and conservation analysis suggest that the p.Val329Leu variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. In summary, the clinical significance of the p.Val329Leu va riant is uncertain.
GeneDx RCV003318556 SCV004022588 uncertain significance not provided 2023-07-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 16879101, 20816984)

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