ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.166_167insGCGGGCC (p.Leu56fs) (rs1596636668)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002345 SCV001160249 pathogenic Polycystic kidney disease, adult type 2019-01-23 criteria provided, single submitter clinical testing The PKD1 c.160_166dupCGCGGGC; p.Leu56fs variant (rs3072277) is reported in the literature in several individuals affected with autosomal dominant polycystic kidney disease (Carrera 2016, Xu 2013). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by inserting seven nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Carrera P et al. Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Sci Rep. 2016 Aug 8;6:30850. Xu J et al. Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney. BMC Nephrol. 2013 Feb 17;14:38.

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.