Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525103 | SCV000630012 | pathogenic | Adrenoleukodystrophy | 2017-06-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). This sequence change deletes 1 nucleotide from exon 1 of the ABCD1 mRNA (c.70delC), causing a frameshift at codon 24. This creates a premature translational stop signal (p.Leu24Serfs*44) and is expected to result in an absent or disrupted protein product. |