ClinVar Miner

Submissions for variant NC_000021.8:g.(?_45705869)_(45711113_?)del

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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 RCV004579309 SCV005068059 pathogenic Polyglandular autoimmune syndrome, type 1 2022-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia (Invitae). This variant is a gross deletion of the genomic region encompassing exon(s) 1-8 of the AIRE gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AIRE are known to be pathogenic (PMID: 11524731, 26141571).

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