ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)

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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 RCV003849623 SCV004650779 pathogenic Polyglandular autoimmune syndrome, type 1 2023-06-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AIRE-related conditions. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu237*) 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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