ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.1807C>T (p.Arg603Ter)

gnomAD frequency: 0.00001  dbSNP: rs121964994
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788845 SCV000928112 likely pathogenic not provided 2018-12-12 criteria provided, single submitter clinical testing
Invitae RCV000816190 SCV000956685 pathogenic Nephronophthisis 2023-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg603*) in the INVS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in INVS are known to be pathogenic (PMID: 12872123). This variant is present in population databases (rs121964994, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 12872123, 21866095). ClinVar contains an entry for this variant (Variation ID: 11959). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000012737 SCV004804987 pathogenic Infantile nephronophthisis 2024-03-17 criteria provided, single submitter research
OMIM RCV000012737 SCV000032972 pathogenic Infantile nephronophthisis 2003-08-01 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.