ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003146012 SCV003834269 likely pathogenic Polyglandular autoimmune syndrome, type 1 2022-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003146012 SCV004282073 pathogenic Polyglandular autoimmune syndrome, type 1 2023-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2440711). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu67*) in the AIRE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003146012 SCV004809382 uncertain significance Polyglandular autoimmune syndrome, type 1 2024-04-04 criteria provided, single submitter clinical testing

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