ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)

gnomAD frequency: 0.00014  dbSNP: rs138843050
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) RCV000732617 SCV000860592 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001395788 SCV001597504 likely benign Peroxisome biogenesis disorder, complementation group 7 2024-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002536485 SCV003535437 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.425G>A (p.R142Q) alteration is located in exon 3 (coding exon 3) of the PEX10 gene. This alteration results from a G to A substitution at nucleotide position 425, causing the arginine (R) at amino acid position 142 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825473 SCV002094133 likely benign Zellweger spectrum disorders 2019-10-28 no assertion criteria provided 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.