ClinVar Miner

Submissions for variant NM_000033.4(ABCD1):c.498_520del (p.Val167fs)

dbSNP: rs398123112
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) RCV000077966 SCV000109795 pathogenic not provided 2012-10-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000077966 SCV001142894 likely pathogenic not provided 2018-12-06 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/204445 chr).
Genome-Nilou Lab RCV001800384 SCV002045805 pathogenic Adrenoleukodystrophy 2021-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001800384 SCV003312681 pathogenic Adrenoleukodystrophy 2022-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val167Leufs*20) in the ABCD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCD1 are known to be pathogenic (PMID: 11748843). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 92327). This variant has not been reported in the literature in individuals affected with ABCD1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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.