ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) (rs777024498)

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
GeneDx RCV000489976 SCV000577744 likely pathogenic not provided 2015-06-04 criteria provided, single submitter clinical testing The G3300R variant in the PKD1 gene has been reported previously as a likely pathogenic variant in association with autosomal dominant polycystic kidney disease (Cornec-Le et al., 2013). No data from the NHLBI Exome Sequencing Project population cohort was available to assess the frequency of this variant. The G3300R 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 in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (V3297M, N3295K and N3295) have been reported in the Human Gene Mutation Database in association with polycystic kidney disease (Stenson et al., 2014), supporting the functional importance of this region of the protein.
University of Iowa Renal Genetics Clinic,University of Iowa RCV001171380 SCV001250666 likely benign Polycystic kidney disease, adult type 2020-03-25 criteria provided, single submitter clinical testing Segregation analysis of the Gly3300Arg variant in an unaffected family member provides evidence this variant now meets ACMG pathogenicity criteria BS4 and BP5 and is therefore classified as likely benign.
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171361 SCV001328308 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP3, PP5

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.