ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.278T>G (p.Leu93Arg)

dbSNP: rs179363884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514297 SCV003444330 pathogenic Polyglandular autoimmune syndrome, type 1 2023-09-29 criteria provided, single submitter clinical testing This variant is also known as c.398T>G. 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: 68224). This missense change has been observed in individual(s) with autoimmune polyendocrinopathy syndrome (PMID: 10084559). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 93 of the AIRE protein (p.Leu93Arg).
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health RCV002514297 SCV004036194 likely pathogenic Polyglandular autoimmune syndrome, type 1 2023-09-14 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059058 SCV000090579 not provided not provided no assertion provided not provided

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