ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2105T>G (p.Leu702Arg)

dbSNP: rs1596577674
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 RCV001000696 SCV001157735 uncertain significance Polycystic kidney disease, adult type 2018-07-03 criteria provided, single submitter clinical testing The PKD1 c.2105T>G; p.Leu702Arg variant, to our knowledge, is not reported in the medical literature or in gene-specific databases. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The leucine at codon 702 is weakly conserved, but computational algorithms (PolyPhen-2: benign, SIFT: damaging) are inconclusive on the effects of this variant on protein structure/function. Due to lack of clinical and functional data regarding this variant, its clinical significance cannot 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.