ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) (rs786204688)

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
Counsyl RCV000169496 SCV000220953 likely pathogenic Autosomal recessive polycystic kidney disease 2014-12-13 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724686 SCV000231425 pathogenic not provided 2015-03-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000169496 SCV000699886 pathogenic Autosomal recessive polycystic kidney disease 2016-05-13 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.9319C>T (p.Arg3107X) variant results in a premature termination codon, predicted to cause a truncated or absent PKHD1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is located in exon 58 and PKHD1 has 67 exons, and nonsense variants downstream of this variant have been reported as pathogenic in ClinVar (i.e. p.Leu3344Ter, p.Gln3407Ter). One in silico tool predicts a damaging outcome for this variant. This variant has been reported in numerous ARPKD cases in both compound heterozygous and homozygous states, and is absent in 121354 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic/pathogenic. Taken together, this variant is 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.