ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.538+3G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808388 SCV000948496 uncertain significance Polyglandular autoimmune syndrome, type 1 2018-12-15 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the AIRE gene. It does not directly change the encoded amino acid sequence of the AIRE protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs557176517, ExAC 0.1%). This variant has not been reported in the literature in individuals with AIRE-related conditions. Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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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