ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.38G>A (p.Arg13Lys)

dbSNP: rs587782693
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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 RCV000132129 SCV000187197 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter clinical testing The p.R27K variant (also known as c.80G>A), located in coding exon 2 of the MUTYH gene, results from a G to A substitution at nucleotide position 80. The arginine at codon 27 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is 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.
Counsyl RCV000411408 SCV000487362 uncertain significance Familial adenomatous polyposis 2 2016-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411408 SCV000545707 uncertain significance Familial adenomatous polyposis 2 2023-11-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 27 of the MUTYH protein (p.Arg27Lys). 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: 142751). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine 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.
Color Diagnostics, LLC DBA Color Health RCV000132129 SCV000690611 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-30 criteria provided, single submitter clinical testing

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