ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) (rs751031560)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757648 SCV000885948 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing The PKD1 c.8194C>T, p.Arg2732Trp variant (rs751031560) has not been reported in the medical literature, nor listed in gene-specific variant databases. It is observed twice in the Genome Aggregation Database general population database (2/30230 alleles). The arginine at position 2732 is weakly conserved, but computational algorithms (Align GVGD: C0; Mutation Taster: polymorphism; PolyPhen-2: possibly damaging; SIFT: damaging) are inconclusive on the variant's impact on PKD1 protein structure or function. Due to the limited information regarding the p.Arg2732Trp variant, its clinical significance could not be determined with certainty.

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.