ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9397+1G>C

dbSNP: rs2544729773
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
PreventionGenetics, part of Exact Sciences RCV003416670 SCV004109562 pathogenic PKD1-related disorder 2023-06-06 criteria provided, single submitter clinical testing The PKD1 c.9397+1G>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported in an individual with autosomal dominant polycystic kidney disease (ADPKD) (Neumann et al. 2013. PubMed ID: 23300259). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in PKD1 are expected to be pathogenic. This variant is interpreted 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.