ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1267C>G (p.Gln423Glu)

dbSNP: rs1697861124
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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 RCV001915760 SCV002185741 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-09-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 glutamic acid 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 sequence change replaces glutamine with glutamic acid at codon 423 of the ADAR protein (p.Gln423Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid.

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