ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.74G>T (p.Gly25Val)

gnomAD frequency: 0.00046  dbSNP: rs972049140
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517600 SCV000614530 benign not specified 2019-10-18 criteria provided, single submitter clinical testing
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001254275 SCV001430240 uncertain significance Autosomal dominant polycystic kidney disease 2019-01-01 criteria provided, single submitter research
GeneDx RCV001576333 SCV001803496 likely benign not provided 2020-02-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005398740 SCV006055055 likely benign Polycystic kidney disease, adult type 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925547 SCV004740244 uncertain significance PKD1-related disorder 2023-11-01 no assertion criteria provided clinical testing The PKD1 c.74G>T variant is predicted to result in the amino acid substitution p.Gly25Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.050% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2185617-C-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.