ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3438G>A (p.Leu1146=)

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
Invitae RCV000796597 SCV000936117 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2019-01-03 criteria provided, single submitter clinical testing This sequence change affects codon 1146 of the PEX1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PEX1 protein. This variant also falls at the last nucleotide of exon 21 of the PEX1 coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PEX1-related conditions. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.