ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1063C>T (p.Pro355Ser)

gnomAD frequency: 0.00001  dbSNP: rs1405678537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065310 SCV001230266 uncertain significance Polyglandular autoimmune syndrome, type 1 2023-02-22 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 859244). This variant has not been reported in the literature in individuals affected with AIRE-related conditions. 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 sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 355 of the AIRE protein (p.Pro355Ser).

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