ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)

dbSNP: rs2091763089
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.