ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1278+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1184559866
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001379865 SCV001577748 likely pathogenic Polyglandular autoimmune syndrome, type 1 2023-03-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1068340). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change affects a donor splice site in intron 10 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).
Natera, Inc. RCV001379865 SCV002076120 likely pathogenic Polyglandular autoimmune syndrome, type 1 2020-12-15 no assertion criteria provided clinical testing

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