ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)

dbSNP: rs780667159
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989177 SCV001139397 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382205 SCV001580864 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-12-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 438163). This premature translational stop signal has been observed in individuals with Leber congenital amaurosis (PMID: 28041643, 30576320). This variant is present in population databases (rs780667159, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg981*) 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).
Genome-Nilou Lab RCV001261192 SCV002045253 pathogenic Leber congenital amaurosis 6 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001800715 SCV002045264 pathogenic Cone-rod dystrophy 13 2021-11-07 criteria provided, single submitter clinical testing
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV000504726 SCV004030317 pathogenic Leber congenital amaurosis 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504726 SCV000599101 likely pathogenic Leber congenital amaurosis 2015-01-01 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001261192 SCV001438593 pathogenic Leber congenital amaurosis 6 no assertion criteria provided research
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) RCV001261192 SCV003927946 pathogenic Leber congenital amaurosis 6 2023-04-01 no assertion criteria provided 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.