ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2020-5A>G

dbSNP: rs2110133917
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001814630 SCV002061324 uncertain significance Polycystic kidney disease 2 2022-01-20 criteria provided, single submitter clinical testing The detected change has not been reported in the relevant databases (dbSNP151, gnomAD, ClinVar), the renowned PKD database (https://pkdb.mayo.edu) or in the literature. Bioinformatically, a probable effect on the acceptor splice site is predicted by various prediction programs (SSF, MaxEnt, GeneSplicer) for the variant, which could lead to altered splicing and be accompanied by a loss of function of the corresponding protein. However, a reliable classification of the variant is not possible based on the current state of knowledge, so that the variant is currently to be regarded as a “variant of uncertain clinical significance” (ACMG criteria).
Fulgent Genetics, Fulgent Genetics RCV001814630 SCV005668032 likely pathogenic Polycystic kidney disease 2 2024-05-22 criteria provided, single submitter clinical testing

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.