ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.172G>A (p.Ala58Thr)

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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 RCV003388734 SCV004100483 uncertain significance Polyglandular autoimmune syndrome, type 1 criteria provided, single submitter clinical testing The missense variant p.A58T in AIRE (NM_000383.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.A58T variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.A58T missense variant is predicted to be damaging by both SIFT and PolyPhen2. The alanine residue at codon 58 of AIRE is conserved in all mammalian species. The nucleotide c.172 in AIRE is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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