ClinVar Miner

Submissions for variant NC_000012.11:g.(?_8765336)_(8765363_?)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 RCV004578415 SCV005067123 pathogenic Hyper-IgM syndrome type 2 2023-11-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the AICDA 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 AICDA are known to be pathogenic (PMID: 11007475). This variant has not been reported in the literature in individuals affected with AICDA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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