ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.340C>T (p.Arg114Cys)

gnomAD frequency: 0.00001  dbSNP: rs200286478
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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 RCV001976522 SCV002264305 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-09-08 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1475802). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (rs200286478, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 114 of the ADAR protein (p.Arg114Cys).

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