ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.59A>G (p.Tyr20Cys)

gnomAD frequency: 0.00002  dbSNP: rs754158375
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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 RCV001947430 SCV002128963 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-09-01 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is present in population databases (rs754158375, ExAC 0.01%). This sequence change replaces tyrosine with cysteine at codon 20 of the ADAR protein (p.Tyr20Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine.

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