ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro)

dbSNP: rs757055929
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003401721 SCV004118682 uncertain significance PKD1-related disorder 2023-07-09 criteria provided, single submitter clinical testing The PKD1 c.4475G>C variant is predicted to result in the amino acid substitution p.Arg1492Pro. This variant has been reported in an individual with polycystic kidney disease (PKD); however, the patient also harbored a pathogenic frameshift variant in PKD1 (Table 1: patient 3, Borràs DM et al. 2017. PubMed ID: 28378423). This variant is reported in 0.0074% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2160693-C-G). Although we suspect this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001794994 SCV002034210 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001794994 SCV002036987 likely benign not provided no assertion criteria provided clinical testing

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.