ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1612C>T (p.Arg538Cys)

gnomAD frequency: 0.00002  dbSNP: rs1416029492
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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 RCV001247580 SCV001421010 uncertain significance Polyglandular autoimmune syndrome, type 1 2024-12-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 538 of the AIRE protein (p.Arg538Cys). This variant is present in population databases (no rsID available, gnomAD 0.009%). This missense change has been observed in individual(s) with autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia (PMID: 38524621). ClinVar contains an entry for this variant (Variation ID: 971733). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt AIRE protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001247580 SCV002076147 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-06-10 no assertion criteria provided clinical testing

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