ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3754del (p.Leu1252fs)

dbSNP: rs2128146668
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972527 SCV002245830 pathogenic Autosomal recessive polycystic kidney disease 2021-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1252Cysfs*51) 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 (ExAC 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.
Baylor Genetics RCV004571734 SCV005056317 likely pathogenic Polycystic kidney disease 4 2024-02-17 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004571734 SCV005442660 likely pathogenic Polycystic kidney disease 4 criteria provided, single submitter clinical testing The observed frameshift variant c.3754delp.Leu1252CysfsTer51 in PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu1252CysfsTer51 variant is absent in gnomAD Exomes. It has been submitted to ClinVar as Pathogenic single submitter. This variant causes a frameshift starting with codon Leucine 1252, changes this amino acid to Cysteine residue, and creates a premature Stop codon at position 51 of the new reading frame, denoted p.Leu1252CysfsTer51.This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing Denamur E, et al., 2010. For these reasons, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV004571734 SCV005671409 likely pathogenic Polycystic kidney disease 4 2024-04-19 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.