ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys)

dbSNP: rs179363883
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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 RCV003522923 SCV004297415 pathogenic Polyglandular autoimmune syndrome, type 1 2023-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt AIRE protein function. ClinVar contains an entry for this variant (Variation ID: 68223). This missense change has been observed in individual(s) with autoimmune polyendocrine syndrome type 1 (PMID: 9837820, 34217342). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs179363883, gnomAD 0.009%), including at least one homozygous and/or hemizygous individual. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 90 of the AIRE protein (p.Tyr90Cys).
UniProtKB/Swiss-Prot RCV000059057 SCV000090578 not provided not provided no assertion provided not provided

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