ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1130+1G>T

dbSNP: rs267608213
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001919804 SCV002159605 uncertain significance Peroxisome biogenesis disorder 2022-08-23 criteria provided, single submitter clinical testing 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. Studies have shown that disruption of this splice site results in skipping of exon 3, but is expected to preserve the integrity of the reading-frame (PMID: 8940266). ClinVar contains an entry for this variant (Variation ID: 1395809). Disruption of this splice site has been observed in individual(s) with clinical features of PEX6-related conditions (PMID: 8940266, 31884617). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 of the PEX6 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.

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.