ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1833T>A (p.Ser611=)

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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 RCV002607317 SCV003507061 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-10-19 criteria provided, single submitter clinical testing 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 (rs752034294, gnomAD 0.0009%). This sequence change affects codon 611 of the ADAR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ADAR protein.

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