ClinVar Miner

Submissions for variant NC_000021.8:g.(?_45709640)_(45714378_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003111134 SCV003793151 pathogenic Polyglandular autoimmune syndrome, type 1 2020-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with AIRE-related conditions. This variant results in the deletion of exon(s) 7-11 and part of exons 6 and 12 (c.753_1495del) of the AIRE gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571).

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