ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter)

dbSNP: rs1601969308
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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 RCV000803575 SCV000943453 pathogenic Polyglandular autoimmune syndrome, type 1 2022-02-01 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: 648772). This premature translational stop signal has been observed in individual(s) with primary immunodeficiencies (PMID: 32531373). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln425*) 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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