ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1785+4G>A

dbSNP: rs1571095587
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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 RCV000801736 SCV000941529 uncertain significance Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 2018-09-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the ADAR gene. It does not directly change the encoded amino acid sequence of the ADAR protein, but it affects a nucleotide within the consensus splice site of the intron. This variant has not been reported in the literature in individuals with ADAR-related disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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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