ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) (rs1557055316)

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 RCV000699538 SCV000828253 pathogenic Adrenoleukodystrophy 2018-12-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 626 of the ABCD1 protein (p.Ala626Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with the cerebral form of adrenoleukodystrophy (CALD) (PMID: 21700483). This variant has also been reported in individuals affected with CALD and adrenomyeloneuropathy (AMN), and has been reported to segregate with disease in an affected family (PMID: 7581394, 7668254). ClinVar contains an entry for this variant (Variation ID: 576910). Experimental studies in patient fibroblasts have found that this missense variant leads to reduced ABCD1 protein expression (PMID: 7668254). For these reasons, this variant has been classified as Pathogenic.

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.