ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.1418A>G (p.Gln473Arg)

dbSNP: rs1454804175
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011920 SCV001172304 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-16 criteria provided, single submitter clinical testing The p.Q501R variant (also known as c.1502A>G), located in coding exon 15 of the MUTYH gene, results from an A to G substitution at nucleotide position 1502. The glutamine at codon 501 is replaced by arginine, 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.
Color Diagnostics, LLC DBA Color Health RCV001011920 SCV001356929 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-13 criteria provided, single submitter clinical testing This missense variant replaces glutamine with arginine at codon 501 of the MUTYH protein. This variant is also known as c.1460A>G (p.Gln487Leu) based on an alternative transcript (NM_001048171). Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV002551752 SCV003447610 uncertain significance Familial adenomatous polyposis 2 2023-02-07 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 501 of the MUTYH protein (p.Gln501Arg). 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: 819395). 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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