ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.347C>T (p.Pro116Leu)

gnomAD frequency: 0.00004  dbSNP: rs151049459
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000798505 SCV000938124 uncertain significance Polyglandular autoimmune syndrome, type 1 2025-01-20 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 116 of the AIRE protein (p.Pro116Leu). This variant is present in population databases (rs151049459, gnomAD 0.008%). 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: 644559). 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.
CeGaT Center for Human Genetics Tuebingen RCV002275157 SCV002563700 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619416 SCV005118711 uncertain significance Inborn genetic diseases 2024-05-22 criteria provided, single submitter clinical testing The c.347C>T (p.P116L) alteration is located in exon 3 (coding exon 3) of the AIRE gene. This alteration results from a C to T substitution at nucleotide position 347, causing the proline (P) at amino acid position 116 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000798505 SCV001460095 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-01-24 no assertion criteria provided clinical testing

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