ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.279_283del (p.Arg94fs) (rs61752122)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781714 SCV000919977 pathogenic Peroxisome biogenesis disorders, Zellweger syndrome spectrum 2018-05-03 criteria provided, single submitter clinical testing Variant summary: PEX2 c.279_283delGAGAT (p.Arg94SerfsX5) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.339_345delCAGGTGG (p.Arg114fsX1), c.355C>T (p.Arg119X)). The variant allele was found at a frequency of 1.6e-05 in 246158 control chromosomes. This frequency is not higher than expected for a pathogenic variant in PEX2 causing Zellweger Syndrome (1.6e-05 vs 0.0011), allowing no conclusion about variant significance. The variant, c.279_283delGAGAT, has been reported in the literature in at least two homozygous individuals and a compound heterozygous individual affected with Zellweger Syndrome (Gootjes 2004, Ebberink_2011). Gootjes et al. also reported experimental evidence evaluating an impact on protein function, demonstrating an absence of peroxisomes and severely decreased peroxisomal enzyme activities in patient fibroblasts. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000128529 SCV000172179 pathogenic Peroxisome biogenesis disorder 5a (zellweger) 2004-03-01 no assertion criteria provided literature only

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.