ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)

gnomAD frequency: 0.00001  dbSNP: rs368138001
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
Eurofins Ntd Llc (ga) RCV000176505 SCV000228173 pathogenic not provided 2013-10-21 criteria provided, single submitter clinical testing
Invitae RCV001246215 SCV001419556 pathogenic Nephronophthisis 2022-06-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 96516). This premature translational stop signal has been observed in individual(s) with nephronopthisis (PMID: 23188109). This variant is present in population databases (rs368138001, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg1125*) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 18371931, 23559409).
Fulgent Genetics, Fulgent Genetics RCV002483155 SCV002778343 pathogenic Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2022-02-25 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.