ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.352G>A (p.Val118Ile)

gnomAD frequency: 0.00004  dbSNP: rs370599883
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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 RCV000798599 SCV000938222 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 118 of the AIRE protein (p.Val118Ile). This variant is present in population databases (rs370599883, gnomAD 0.006%). 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: 644640). 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. RCV000798599 SCV002083851 uncertain significance Polyglandular autoimmune syndrome, type 1 2020-02-21 no assertion criteria provided clinical testing

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