ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)

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
Lifecell International Pvt. Ltd RCV003228760 SCV003925470 likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger) criteria provided, single submitter clinical testing A Heterozygous indel variant c.379_380delinsGA in Exon 4 of the PEX26 gene that results in the amino acid substitution p.Leu127Glu was identified. The observed variant has a minimum allele frequency of 0% in gnomAD exomes and genomes, respectively. The severity of the impact of this variant on the protein is high, based on the effect of the protein and REVEL score. Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination of scores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons. The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease- causing. Based on the above evidence this variant has been classified as Likely Pathogenic according to the ACMG guidelines.

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.