Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000633482 | SCV000754715 | pathogenic | Adrenoleukodystrophy | 2017-10-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly607Alafs*28) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). 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 not been reported in the literature in individuals with ABCD1-related disease. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000633482 | SCV001554538 | pathogenic | Adrenoleukodystrophy | 2024-07-11 | criteria provided, single submitter | clinical testing | Variant summary: ABCD1 c.1820_1823delGTGG (p.Gly607AlafsX28) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The frequency data for this variant in gnomAD is considered unreliable, as metrics indicate poor data quality at this position. To our knowledge, no occurrence of c.1820_1823delGTGG in individuals affected with Adrenoleukodystrophy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 528339). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Genome- |
RCV000633482 | SCV002045841 | pathogenic | Adrenoleukodystrophy | 2021-11-07 | criteria provided, single submitter | clinical testing |