ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1096-1G>A

gnomAD frequency: 0.00001  dbSNP: rs780906602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666740 SCV000791090 pathogenic Polyglandular autoimmune syndrome, type 1 2017-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666740 SCV004297416 pathogenic Polyglandular autoimmune syndrome, type 1 2023-09-24 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with autosomal recessive autoimmune polyendocrinopathy syndrome (PMID: 9888391, 26114819). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change affects an acceptor splice site in intron 9 of the AIRE gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571). This variant is present in population databases (rs780906602, gnomAD 0.0009%). This variant is also known as IVS9-1G>A. ClinVar contains an entry for this variant (Variation ID: 551625). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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