ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2077C>G (p.Gln693Glu)

gnomAD frequency: 0.00001  dbSNP: rs121912423
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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 RCV001888100 SCV002119321 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-07-12 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1355685). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (rs121912423, gnomAD 0.05%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 693 of the ADAR protein (p.Gln693Glu).

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