ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8369del (p.Pro2790fs)

dbSNP: rs1057518604
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413759 SCV000492397 pathogenic not provided 2016-12-02 criteria provided, single submitter clinical testing The c.8369delC variant in the PKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.8369delC variant causes a frameshift starting with codon Proline 2790, changes this amino acid to a Arginine residue, and creates a premature Stop codon at position 85 of the new reading frame, denoted p.Pro2790ArgfsX85. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.8369delC variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.8369delC as a pathogenic variant.
PreventionGenetics, part of Exact Sciences RCV003392231 SCV004110329 likely pathogenic PKD1-related condition 2023-03-08 criteria provided, single submitter clinical testing The PKD1 c.8369delC variant is predicted to result in a frameshift and premature protein termination (p.Pro2790Argfs*85). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKD1 are expected to be pathogenic. This variant is interpreted as likely 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.