ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.798+5G>A

gnomAD frequency: 0.00001  dbSNP: rs1490186498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701070 SCV000829853 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-05-10 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the AIRE gene. It does not directly change the encoded amino acid sequence of the AIRE protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has been observed in individual(s) with chronic granulomatous disease (PMID: 33225392). ClinVar contains an entry for this variant (Variation ID: 578148). 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 may disrupt the consensus splice site. 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.
Natera, Inc. RCV000701070 SCV002083877 uncertain significance Polyglandular autoimmune syndrome, type 1 2019-10-28 no assertion criteria provided clinical testing

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