ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) (rs763514968)

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
Counsyl RCV000409536 SCV000486061 likely pathogenic Rhizomelic chondrodysplasia punctata type 1 2016-03-22 criteria provided, single submitter clinical testing
Invitae RCV001387967 SCV001588747 pathogenic Peroxisome biogenesis disorder 9B 2020-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln93*) in the PEX7 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs763514968, ExAC 0.001%). This variant has not been reported in the literature in individuals with PEX7-related conditions. ClinVar contains an entry for this variant (Variation ID: 370682). Loss-of-function variants in PEX7 are known to be pathogenic (PMID: 12325024, 12522768, 20301447). 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.