ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1628T>C (p.Leu543Pro)

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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003128553 SCV003804595 uncertain significance Polycystic kidney disease 4 2023-02-27 criteria provided, single submitter clinical testing The detected change has not been reported in control collectives (gnomAD) or in ClinVar. Bioinformatically, the change is classified as "likely disease-causing" (PolyPhen2, Mutation Taster, SIFT, CADDphred 28.2). Based on the current state of knowledge, the variant can still be classified as a “variant of uncertain clinical significance” (ACMG criteria).

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.