ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153002601)_(153002715_?)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 RCV001383343 SCV001582433 pathogenic Adrenoleukodystrophy 2020-03-03 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the ABCD1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). This variant has been observed in individual(s) with X-linked adrenoleukodystrophy (Invitae).

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