ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11737C>T (p.Arg3913Cys)

gnomAD frequency: 0.00019  dbSNP: rs151198392
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
GeneDx RCV001794671 SCV002032546 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing Observed in a patient with a clinical diagnosis of ARPKD in published literature, but additional information is not available (Sharp et al., 2005); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32457805, 15805161)
Invitae RCV002074119 SCV002414525 likely benign Autosomal recessive polycystic kidney disease 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003931336 SCV004742122 uncertain significance PKHD1-related disorder 2023-12-06 criteria provided, single submitter clinical testing The PKHD1 c.11737C>T variant is predicted to result in the amino acid substitution p.Arg3913Cys. This variant was reported in an individual with polycystic kidney disease (Sharp et al 2005. PubMed ID: 15805161; Mantovani V et al 2020. PubMed ID: 32457805). This variant is reported in 0.064% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51491843-G-A), which may be too common to be causative of disease. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.