Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000812852 | SCV000953180 | pathogenic | Adrenoleukodystrophy | 2018-08-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with ABCD1-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Asn13Thrfs*3) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. |