ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs)

dbSNP: rs1885757549
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
MGZ Medical Genetics Center RCV001261177 SCV002579242 pathogenic Leber congenital amaurosis 6 2022-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770355 SCV004570885 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2023-09-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1211Serfs*4) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 981637). This variant is also known as 3629insG, ins 3629+1G. This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 11528500). This variant is not present in population databases (gnomAD no frequency).
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001261177 SCV001438573 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research

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.