ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1235G>A (p.Gly412Glu)

gnomAD frequency: 0.00001  dbSNP: rs1557458862
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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 RCV000692434 SCV000820259 uncertain significance Familial adenomatous polyposis 2 2024-01-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 440 of the MUTYH protein (p.Gly440Glu). 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: 571319). 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 disruptive. 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.
GeneDx RCV001563165 SCV001786055 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002386202 SCV002691801 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-25 criteria provided, single submitter clinical testing The p.G440E variant (also known as c.1319G>A), located in coding exon 13 of the MUTYH gene, results from a G to A substitution at nucleotide position 1319. The glycine at codon 440 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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