ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1589G>A (p.Cys530Tyr)

dbSNP: rs2544871753
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 RCV003901486 SCV004715658 pathogenic PKD1-related disorder 2023-10-31 no assertion criteria provided clinical testing The PKD1 c.1589G>A variant is predicted to result in the amino acid substitution p.Cys530Tyr. This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been reported in individuals with autosomal dominant polycystic kidney disease (ADPKD) (Liu et al. 2015. PubMed ID: 26274329; Simms et al. 2015. PubMed ID: 25340609). The p.Cys530 residue is highly conserved during evolution and other variants affecting flanking highly-conserved codons have been reported to be pathogenic for ADPKD (Human Gene Mutation Database - HGMD). Of note, we have found this variant in the heterozygous state in an individual tested for autosomal dominant polycystic kidney disease (ADPKD) at PreventionGenetics. 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.