ClinVar Miner

Submissions for variant NC_000006.11:g.(?_51747238)_(51752053_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003123085 SCV003796319 pathogenic Autosomal recessive polycystic kidney disease 2022-09-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 44-46 of the PKHD1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant disrupts a region of the PKHD1 protein in which other variant(s) (p.Ile2427Thr) have been determined to be pathogenic (PMID: 15698423, 27225849). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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.