ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1199C>T (p.Ala400Val)

gnomAD frequency: 0.00001  dbSNP: rs1060501326
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464172 SCV000545732 uncertain significance Familial adenomatous polyposis 2 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 428 of the MUTYH protein (p.Ala428Val). 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: 406832). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV000573432 SCV000662613 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-24 criteria provided, single submitter clinical testing The p.A428V variant (also known as c.1283C>T), located in coding exon 13 of the MUTYH gene, results from a C to T substitution at nucleotide position 1283. The alanine at codon 428 is replaced by valine, an amino acid with similar properties. 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 variant remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000573432 SCV001358160 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-30 criteria provided, single submitter clinical testing
GeneDx RCV001555548 SCV001776987 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports 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: 25124163)
Baylor Genetics RCV000464172 SCV005056090 uncertain significance Familial adenomatous polyposis 2 2023-11-18 criteria provided, single submitter clinical testing

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