ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3094_3095delinsTA (p.Arg1032Tyr)

dbSNP: rs2101566531
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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 RCV001976729 SCV002260964 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2023-08-17 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: 1479344). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces arginine with tyrosine at codon 1032 of the ADAR protein (p.Arg1032Tyr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tyrosine.

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