ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)

dbSNP: rs954814470
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669293 SCV000794033 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2017-11-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729582 SCV000857255 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
Invitae RCV002531221 SCV001204911 likely pathogenic Zellweger spectrum disorders 2023-05-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PEX1 protein function. ClinVar contains an entry for this variant (Variation ID: 553776). This missense change has been observed in individual(s) with Zellweger spectrum disorders (PMID: 28446956, 32483926, 33955814). It has also been observed to segregate with disease in related individuals. This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1026 of the PEX1 protein (p.Leu1026Pro).
Baylor Genetics RCV001332474 SCV001524808 uncertain significance Peroxisome biogenesis disorder 1B 2019-12-04 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV003472113 SCV004203315 pathogenic Heimler syndrome 1 2023-07-18 criteria provided, single submitter 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.