ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1259A>G (p.Tyr420Cys)

dbSNP: rs755878230
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
GeneDx RCV000414530 SCV000491116 likely pathogenic not provided 2016-02-19 criteria provided, single submitter clinical testing The Y420C variant in the PKD1 gene has been reported previously as a pathogenic variant in an individual with clinical polycystic kidney disease. However, that individual also had a second pathogenic variant in the PKD1 gene and phase was not confirmed (Garcia-Gonzalez et al., 2007) . The Y420C variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Y420C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret Y420C as a likely pathogenic variant.

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.