ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1435G>T (p.Val479Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448736 SCV004176402 uncertain significance Polyglandular autoimmune syndrome, type 1 2023-03-01 criteria provided, single submitter clinical testing The missense variant c.1435G>T(p.Val479Leu) in AIRE gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Valine at position 479 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance.

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