ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln) (rs374129201)

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
GeneDx RCV000521721 SCV000618977 uncertain significance not provided 2017-07-18 criteria provided, single submitter clinical testing The R1351Q variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 30/8520 (0.35%) alleles from individuals of East Asian background in the ExAC dataset (Lek et al., 2016). The R1351Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. A missense variant at the same codon (R1351W) has been previously reported in an individual with polycystic kidney disease; however, this individual also harbored several other PKD1 variants (Garcia-Gonzalez et al., 2007). We interpret R1351Q as a variant of uncertain significance.

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.