Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000012061 | SCV004298788 | pathogenic | Adrenoleukodystrophy | 2023-09-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met598Valfs*2) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cerebral adrenomyeloneuropathy (PMID: 8040304). This variant is also known as 2177delTA. ClinVar contains an entry for this variant (Variation ID: 11309). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000012061 | SCV000032295 | pathogenic | Adrenoleukodystrophy | 1994-08-01 | no assertion criteria provided | literature only |