ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser)

gnomAD frequency: 0.00003  dbSNP: rs552542784
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195920 SCV001366344 uncertain significance Polycystic kidney disease, adult type 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2.
Fulgent Genetics, Fulgent Genetics RCV001195920 SCV002801428 uncertain significance Polycystic kidney disease, adult type 2022-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV005384969 SCV006045315 uncertain significance Inborn genetic diseases 2025-02-28 criteria provided, single submitter clinical testing The c.5071G>A (p.G1691S) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 5071, causing the glycine (G) at amino acid position 1691 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001195920 SCV006055015 uncertain significance Polycystic kidney disease, adult type 2022-05-03 criteria provided, single submitter research

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.