Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038533 | SCV001202007 | likely pathogenic | Adrenoleukodystrophy | 2020-03-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 544 of the ABCD1 protein (p.Gln544Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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. This variant has been reported to have conflicting or insufficient data to determine the effect on ABCD1 protein function (PMID: 17542813, 9212180). This variant has been observed in individual(s) with X-linked adrenoleukodystrophy (PMID: 9212180, 10190819, 20661612, Invitae). |