ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153008421)_(153009209_?)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 RCV000633500 SCV000754735 pathogenic Adrenoleukodystrophy 2018-11-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 8-10 of the ABCD1 gene. The 5' boundary is likely confined to intron 7. 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. Deletion of exons 8-10 has been reported in individuals affected with adrenoleukodystrophy or adrenomyeloneuropathy (PMID: 20661612, 7581394). A missense substitution encompassed by this deletion (p.Ser606Leu) has been determined to be pathogenic (PMID: 7581394, 8040304, 10190819, 12624723, 15811009, 11248239, 12530690, 17542813, Invitae). This suggests that the serine residue is critical for ABCD1 protein function and that deletions of this position may also be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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