ClinVar Miner

Submissions for variant NM_000383.4(AIRE):c.1566+4A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003455877 SCV004177124 uncertain significance Polyglandular autoimmune syndrome, type 1 2023-10-31 criteria provided, single submitter clinical testing The AIRE c.1566+4A>G variant, to our knowledge, has not been reported in the medical literature and is only observed on 1/249,918 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors are uncertain if this variant would alter splicing. Other variants in the canonical splicing donor immediately upstream of this variant have been described in the ClinVar database as pathogenic or likely pathogenic (ClinVar IDs: 2421759, 370846, 371075). Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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