ClinVar Miner

Submissions for variant NC_000023.11:g.(?_153736102)_(153743745_?)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 RCV001031260 SCV001194566 pathogenic Adrenoleukodystrophy 2019-06-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 3-10 of the ABCD1 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has been observed to be de novo in individuals affected with adrenoleukodystrophy (PMID: 7581394, 21700483). For these reasons, this variant has been classified as Pathogenic.

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