ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.488C>A (p.Pro163His)

gnomAD frequency: 0.00004  dbSNP: rs771592755
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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 RCV001925703 SCV002187347 uncertain significance Polyglandular autoimmune syndrome, type 1 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 163 of the AIRE protein (p.Pro163His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1413107). 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.
Fulgent Genetics, Fulgent Genetics RCV001925703 SCV002787004 uncertain significance Polyglandular autoimmune syndrome, type 1 2021-07-21 criteria provided, single submitter clinical testing

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