ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.200C>G (p.Ala67Gly)

dbSNP: rs1645363196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292910 SCV001481606 uncertain significance Familial adenomatous polyposis 2 2020-03-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002436999 SCV002749850 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-12 criteria provided, single submitter clinical testing The p.A95G variant (also known as c.284C>G), located in coding exon 3 of the MUTYH gene, results from a C to G substitution at nucleotide position 284. The alanine at codon 95 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001292910 SCV005715889 uncertain significance Familial adenomatous polyposis 2 2024-10-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 95 of the MUTYH protein (p.Ala95Gly). 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: 997626). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glycine 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.

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