ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del)

dbSNP: rs1567206560
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 RCV000756530 SCV000884365 likely pathogenic not provided 2018-06-20 criteria provided, single submitter clinical testing The PKD1 c.3145_3156del12; p.Val1049_Ala1052del variant, to our knowledge, is not described in the medical literature or in gene-specific database. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes 4 amino acid residues leaving the rest of the protein in-frame. Other in-frame deletions in this region (c.3137_3154del; p.Asp1046_Val1051del, c.3122_3124del; p.Ala1041del) have been described in individuals with autosomal dominant polycystic kidney disease and are considered pathogenic (Carrera 2016, Neumann 2013). Based on available information, this variant is considered likely 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. Neumann H et al. Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. Nephrol Dial Transplant. 2013 Jun;28(6):1472-87.

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.