ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1785G>A (p.Lys595=)

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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 RCV003818018 SCV004607483 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2024-01-17 criteria provided, single submitter clinical testing This sequence change affects codon 595 of the ADAR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ADAR protein. This variant also falls at the last nucleotide of exon 3, which is part of the consensus splice site for this exon. This variant is present in population databases (rs773832743, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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