ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter) (rs1485445500)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785914 SCV000924490 pathogenic Nephronophthisis 3 2018-06-15 criteria provided, single submitter research The heterozygous p.Arg392Ter variant was identified by our study in the compound heterozygous state, with a pathogenic variant, in one individual with nephronophthisis. This variant has been identified in <0.01% (1/25790) of European (Finnish) chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs143197357). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Loss of function of the NPHP3 gene is an established disease mechanism in autosomal recessive nephronophthisis, and this is a loss of function variant. In summary, this variant is 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.