Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813592 | SCV000953958 | pathogenic | Adrenoleukodystrophy | 2019-01-14 | criteria provided, single submitter | clinical testing | 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 an individual affected with an ABCD1-related disorder (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln136Hisfs*62) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. |