ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1462C>T (p.Arg488Ter) (rs778043242)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000353231 SCV000358524 uncertain significance NPHP4-Related Disorders 2017-04-27 criteria provided, single submitter clinical testing The NPHP4 c.1462C>T (p.Arg488Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The p.Arg488Ter variant has been reported in a single study in which it was found in a homozygous state in one individual with nephronophthisis (Hoefele et al. 2005). The p.Arg488Ter variant was absent from at least 86 controls and is reported at a frequency of 0.00020 in the European (non-Finnish) population of the Exome Aggregation Consortium. The evidence for this variant is limited. Based on the potential impact of stop-gained variants and the limited evidence from the literature, the p.Arg488Ter variant is classified a variant of unknown significance but suspicious for pathogenicity for NPHP4-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000728192 SCV000855736 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing

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.