ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2746C>T (p.Arg916Trp)

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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 RCV002634312 SCV003523448 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-05-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 916 of the ADAR protein (p.Arg916Trp). This missense change has been observed in individual(s) with autosomal dominant dyschromatosis symmetrica hereditaria and/or clinical features of autosomal recessive Aicardi-Goutieres syndrome (PMID: 15102079, 28561207, 29915444). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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