ClinVar Miner

Submissions for variant NM_001048171.1(MUTYH):c.80G>A (p.Arg27Lys) (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 2018-12-05 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. Based on protein sequence alignment, this amino acid position is not well conserved in available vertebrate species, and lysine is the reference amino acid in other 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 MYH-associated polyposis 2016-06-08 criteria provided, single submitter clinical testing
Invitae RCV000411408 SCV000545707 uncertain significance MYH-associated polyposis 2016-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 27 of the MUTYH protein (p.Arg27Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MUTYH-related disease. 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The lysine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Health, Inc RCV000132129 SCV000690611 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-30 criteria provided, single submitter clinical testing

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