ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1830C>G (p.Tyr610Ter)

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
Molecular Genetics Laboratory, Motol Hospital RCV004781990 SCV005393881 likely pathogenic Polycystic kidney disease, adult type 2024-11-07 criteria provided, single submitter clinical testing This variant was detected in a female with polycystic kidney disease, visual abnormality and additional ribs. The segregation molecular genetic analysis in her parents was not performed. The relevant medical/scientific publications report on pathogenic PKD1 gene variants as a molecular cause of polycystic kidney disease 1 (PMID:10655152;8320707;2215575). This novel variant correlates with the clinical manifestation of PKD1. To conclude, the variant is classified as likely pathogenic (ACMG PVS1, PM2).

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.