ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.860G>A (p.Ser287Asn)

gnomAD frequency: 0.00001  dbSNP: rs375819189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793969 SCV000933351 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 287 of the AIRE protein (p.Ser287Asn). This variant is present in population databases (rs375819189, 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: 640857). 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.
Natera, Inc. RCV000793969 SCV002083878 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-05-18 no assertion criteria provided clinical testing

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