Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548944 | SCV000629994 | pathogenic | Adrenoleukodystrophy | 2023-06-05 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 458636). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in aberrant splicing and introduces a premature termination codon (PMID: 25835712). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant is also known as T(+2)->G. Disruption of this splice site has been observed in individual(s) with adrenoleukodystrophy (PMID: 10480364, 21889498, 25835712). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 7 of the ABCD1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. |