ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)

gnomAD frequency: 0.00001  dbSNP: rs747170980
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
Invitae RCV001066696 SCV001231712 pathogenic Autosomal recessive polycystic kidney disease 2023-05-01 criteria provided, single submitter clinical testing This variant disrupts a region of the PKHD1 protein in which other variant(s) (p.Arg3961*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 860404). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is present in population databases (rs747170980, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Leu3877Argfs*54) in the PKHD1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 198 amino acid(s) of the PKHD1 protein.
Baylor Genetics RCV003473690 SCV004202212 pathogenic Polycystic kidney disease 4 2023-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001066696 SCV002075475 uncertain significance Autosomal recessive polycystic kidney disease 2021-06-08 no assertion criteria provided 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.