ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.508_517dup (p.Gln173fs)

dbSNP: rs1179261094
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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 RCV001389498 SCV001590890 pathogenic Polyglandular autoimmune syndrome, type 1 2021-10-29 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: 1075801). 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 0.007%). This sequence change creates a premature translational stop signal (p.Gln173Argfs*47) 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).

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