ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.2283A>G (p.Gln761=)

gnomAD frequency: 0.00001  dbSNP: rs186310208
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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 RCV001990775 SCV002261931 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2021-10-03 criteria provided, single submitter clinical testing 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 (rs186310208, ExAC 0.01%). This sequence change affects codon 761 of the ADAR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ADAR protein. 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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