Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001379281 | SCV001577054 | likely pathogenic | Adrenoleukodystrophy | 2020-05-20 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with X-linked adrenoleukodystrophy (Invitae). This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 2 (c.901-9_903del) of the ABCD1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |