ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) (rs137852949)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723837 SCV000331544 pathogenic not provided 2015-09-19 criteria provided, single submitter clinical testing
Counsyl RCV000004330 SCV000677912 pathogenic Autosomal recessive polycystic kidney disease 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000004330 SCV000699850 pathogenic Autosomal recessive polycystic kidney disease 2016-08-25 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.1486C>T (p.Arg496X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.c.9319C>T/p.Arg3107X). One in silico tool predicts a damaging outcome for this variant. This variant was found in 69/121402 control chromosomes at a frequency of 0.0005684, which does not exceed the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711). Variant was primarily detected in Finnish European population in both controls and cases, and it was reported as a founder mutation for Finnish population. In addition, multiple reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Blueprint Genetics RCV000723837 SCV000927414 pathogenic not provided 2017-09-22 criteria provided, single submitter clinical testing
OMIM RCV000004330 SCV000024501 pathogenic Autosomal recessive polycystic kidney disease 2003-01-01 no assertion criteria provided literature only
Yale Center for Mendelian Genomics,Yale University RCV000845135 SCV000987071 likely pathogenic Polycystic liver disease 2017-04-04 no assertion criteria provided literature only

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.