ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.454G>A (p.Ala152Thr)

gnomAD frequency: 0.00001  dbSNP: rs771314896
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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 RCV001277498 SCV003502875 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 152 of the AIRE protein (p.Ala152Thr). This variant is present in population databases (rs771314896, gnomAD 0.007%). 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: 989631). 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. 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 RCV003353269 SCV004071285 uncertain significance Inborn genetic diseases 2023-06-26 criteria provided, single submitter clinical testing The c.454G>A (p.A152T) alteration is located in exon 3 (coding exon 3) of the AIRE gene. This alteration results from a G to A substitution at nucleotide position 454, causing the alanine (A) at amino acid position 152 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277498 SCV001464457 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-04-20 no assertion criteria provided clinical testing

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