ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.3444G>A (p.Gly1148=)

dbSNP: rs2101558286
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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 RCV001898961 SCV002170984 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2022-10-25 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1404209). This variant has not been reported in the literature in individuals affected with ADAR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 1148 of the ADAR mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ADAR protein. It affects a nucleotide within the consensus splice site.

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