ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1454A>T (p.Glu485Val)

gnomAD frequency: 0.00002  dbSNP: rs779510704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696381 SCV000824941 uncertain significance Polyglandular autoimmune syndrome, type 1 2024-06-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 485 of the AIRE protein (p.Glu485Val). This variant is present in population databases (rs779510704, gnomAD 0.01%). 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: 574447). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae 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.
Ambry Genetics RCV004972870 SCV005586594 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.1454A>T (p.E485V) alteration is located in exon 12 (coding exon 12) of the AIRE gene. This alteration results from a A to T substitution at nucleotide position 1454, causing the glutamic acid (E) at amino acid position 485 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000696381 SCV002076135 uncertain significance Polyglandular autoimmune syndrome, type 1 2019-10-28 no assertion criteria provided clinical testing

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