ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2879A>G (p.Tyr960Cys)

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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 RCV002634311 SCV003523901 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-07-24 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 960 of the ADAR protein (p.Tyr960Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with dyschromatosis symmetrica hereditaria (PMID: 15347341). 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 disruptive. 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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