ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.592G>A (p.Ala198Thr)

gnomAD frequency: 0.00003  dbSNP: rs764385471
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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 RCV001229372 SCV001401816 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-06-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 198 of the ADAR protein (p.Ala198Thr). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 956544). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (rs764385471, gnomAD 0.009%).

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