ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11741dup (p.Ala3915fs)

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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV003110172 SCV003761538 likely pathogenic Polycystic kidney disease, adult type 2022-10-26 criteria provided, single submitter clinical testing The variant is not listed in control collectives (gnomAD). It has not yet been described in the literature, in the PKD1 locus-specific database (https://pkdb.mayo.edu, as of October 26, 2022) or in the ClinVar database. The change leads to a reading frameshift and therefore in all probability to a loss of function of the protein. The variant is currently to be regarded as a "likely pathogenic variant" (ACMG criteria).

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.