ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8303-1G>A

dbSNP: rs786204241
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 RCV000168405 SCV000219099 pathogenic Autosomal recessive polycystic kidney disease 2019-08-23 criteria provided, single submitter clinical testing For these reasons, this sequence change has been classified as Pathogenic. This sequence change has been observed in an individual affected with autosomal recessive polycystic kidney disease (Invitae database). Furthermore, family studies established that it occurred in trans with a known pathogenic variant. Consensus splice site changes in PKHD1 are known to be pathogenic (PMID: 15805161). This particular sequence change has not been reported in the literature. This sequence change affects an acceptor splice site in intron 52 and is expected to disrupt mRNA splicing.

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.