ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003326723 SCV005760275 pathogenic Polyglandular autoimmune syndrome, type 1 2024-06-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys437*) 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). This variant is not present in population databases (gnomAD no frequency). 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: 2503450). For these reasons, this variant has been classified as Pathogenic.
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV003326723 SCV003927961 likely pathogenic Polyglandular autoimmune syndrome, type 1 2023-04-01 no assertion criteria provided clinical testing

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