ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)

dbSNP: rs398123113
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000077967 SCV000109796 likely pathogenic not provided 2014-09-04 criteria provided, single submitter clinical testing
Invitae RCV001390637 SCV001592435 pathogenic Adrenoleukodystrophy 2020-02-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individuals affected with X-linked adrenoleukodystrophy (PMID: 30902905). ClinVar contains an entry for this variant (Variation ID: 92328). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glutamic acid at codon 205 of the ABCD1 protein (p.Ala205Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid.
Genome-Nilou Lab RCV001390637 SCV002045811 pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000077967 SCV003824443 uncertain significance not provided 2021-12-06 criteria provided, single submitter clinical testing

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.