ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.514del (p.Asp172fs)

dbSNP: rs1232369409
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
Athena Diagnostics Inc RCV000517702 SCV000614573 pathogenic not provided 2016-10-20 criteria provided, single submitter clinical testing
Invitae RCV000559148 SCV000658974 pathogenic Autosomal dominant polycystic kidney disease 2017-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKD2 are known to be pathogenic (PMID: 17582161, 22863349). This variant has not been reported in the literature in individuals with a PKD2-related disease. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Asp172Thrfs*61) in the PKD2 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV000517702 SCV004031692 pathogenic not provided 2023-03-03 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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.