ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1865G>A (p.Cys622Tyr)

dbSNP: rs776484151
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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 RCV001214193 SCV001385864 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-08-19 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 622 of the ADAR protein (p.Cys622Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs776484151, ExAC 0.006%). This variant has not been reported in the literature in individuals with ADAR-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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