Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223848 | SCV001396015 | likely pathogenic | Adrenoleukodystrophy | 2023-03-10 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 951851). This missense change has been observed in individuals with adrenoleukodystrophy (PMID: 9242200). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 559 of the ABCD1 protein (p.Tyr559His). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCD1 protein function. 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. |
Natera, |
RCV001223848 | SCV002084648 | uncertain significance | Adrenoleukodystrophy | 2021-04-20 | no assertion criteria provided | clinical testing |