ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6210G>A (p.Trp2070Ter)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV002867520 SCV003237523 pathogenic Autosomal recessive polycystic kidney disease 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp2070*) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive polycystic kidney disease (PMID: 15108281). ClinVar contains an entry for this variant (Variation ID: 2031843). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465857 SCV004204707 pathogenic Polycystic kidney disease 4 2023-03-20 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.