ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.6364del (p.Ala2122fs)

dbSNP: rs2536668310
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 RCV003613085 SCV004435051 pathogenic Autosomal recessive polycystic kidney disease 2023-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2122Leufs*7) 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 variant has not been reported in the literature in individuals affected with PKHD1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005036929 SCV005671825 likely pathogenic Polycystic kidney disease 4 2024-02-24 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.