ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)

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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 RCV003524617 SCV004319544 pathogenic Polyglandular autoimmune syndrome, type 1 2023-09-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the AIRE protein in which other variant(s) (p.Pro539Leu) have been determined to be pathogenic (PMID: 11836330, 15811934, 17289071, 21295522, 28446514). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.Val484Profs*28) in the AIRE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 62 amino acid(s) of the AIRE protein.

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