ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1289C>T (p.Pro430Leu)

gnomAD frequency: 0.00001  dbSNP: rs751271727
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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 RCV001363552 SCV001559668 uncertain significance Polyglandular autoimmune syndrome, type 1 2024-08-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 430 of the AIRE protein (p.Pro430Leu). This variant is present in population databases (rs751271727, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1054956). 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 not expected to disrupt AIRE protein function with a negative 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. RCV001363552 SCV002076123 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-06-08 no assertion criteria provided clinical testing

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