ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.547_548AT[1] (p.Ile183fs)

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 RCV001064243 SCV001229131 pathogenic Peroxisome biogenesis disorder 5a (zellweger) 2019-02-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the PEX2 gene (p.Ile183Metfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 123 amino acids of the PEX2 protein. This variant is present in population databases (rs756891007, ExAC 0.01%). This variant has not been reported in the literature in individuals with PEX2-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the C-terminus of the PEX2 protein. Another variant that disrupts this region (p.Arg184Valfs*8) has been determined to be pathogenic (PMID: 10652207, 14630978, 17041890). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. 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.