ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1383C>T (p.Ala461=)

gnomAD frequency: 0.00066  dbSNP: rs147485628
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893974 SCV001037939 likely benign Polyglandular autoimmune syndrome, type 1 2025-01-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818695 SCV002071161 likely benign not specified 2020-09-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275170 SCV002563701 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing AIRE: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV002275170 SCV005207503 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000893974 SCV001464227 likely benign Polyglandular autoimmune syndrome, type 1 2020-04-29 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004754613 SCV005351165 likely benign AIRE-related disorder 2024-07-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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