ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.557A>G (p.Gln186Arg)

gnomAD frequency: 0.00001  dbSNP: rs375311213
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001874783 SCV002140604 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-10-15 criteria provided, single submitter clinical testing 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. 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 variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 186 of the ADAR protein (p.Gln186Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine.

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