ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.12G>A (p.Trp4Ter)

dbSNP: rs780905861
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197495 SCV001368261 pathogenic Senior-Loken syndrome 4 2019-09-23 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294447 SCV002587735 likely pathogenic Kidney disorder 2020-08-04 criteria provided, single submitter clinical testing
Invitae RCV003117841 SCV003787552 pathogenic Nephronophthisis 2022-03-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 931168). This variant has not been reported in the literature in individuals affected with NPHP4-related conditions. This variant is present in population databases (rs780905861, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Trp4*) in the NPHP4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP4 are known to be pathogenic (PMID: 12205563, 23559409). 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.