ClinVar Miner

Submissions for variant NC_000023.10:g.(?_152994667)_(152994887_?)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 RCV004582996 SCV005064070 pathogenic Adrenoleukodystrophy 2023-11-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2 of the ABCD1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). A similar copy number variant has been observed in individual(s) with X-linked adrenoleukodystrophy (PMID: 27248780). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

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