ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro)

dbSNP: rs1320401077
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
Laboratory of Molecular Genetics, Children's Memorial Health Institute RCV001257514 SCV001434258 likely pathogenic Autosomal recessive polycystic kidney disease 2020-05-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261328 SCV002542176 uncertain significance not provided 2021-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001257514 SCV002933705 uncertain significance Autosomal recessive polycystic kidney disease 2022-05-30 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 3746 of the PKHD1 protein (p.Leu3746Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 33282801). ClinVar contains an entry for this variant (Variation ID: 978804). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.