ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1203_1278+28del

gnomAD frequency: 0.00008  dbSNP: rs1568929576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051497 SCV001215652 likely pathogenic Polyglandular autoimmune syndrome, type 1 2023-12-28 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 10 (c.1203_1278+28del) 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 (no rsID available, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 847862). 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.
Natera, Inc. RCV001051497 SCV001457186 likely pathogenic Polyglandular autoimmune syndrome, type 1 2020-09-16 no assertion criteria provided clinical testing

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