ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.290A>G (p.Asp97Gly)

dbSNP: rs2092684310
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
Breda Genetics srl RCV001293852 SCV001482517 likely pathogenic Polycystic kidney disease, adult type 2021-02-03 criteria provided, single submitter clinical testing The variant c.290A>G (p.Asp97Gly) in the PKD1 gene is reported as likely pathogenic for the dominant form of polycystic kidney disease in the Global Variome shared LOVD database v.3.0 (genomic variant: #0000671281). The missense mutation c.290A>G (p.Asp97Gly) has been firstly reported by Hoefele et al. (2010) in a patient with autosomal dominant polycystic kidney disease (PMID: 21115670) and recently by Pandita et al. (2019) in a sporadic case of autosomal dominant polycystic kidney disease (PMID: 30816285). This variant has not been reported in dbSNP, gnomAD or ClinVar. The nucleotide position is conserved across 35 mammalian species (GERP RS: 4.17). In silico analysis indicates that the variant might be damaging.

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.