ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter)

dbSNP: rs1057520162
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000425777 SCV000511480 likely pathogenic not provided 2016-09-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835792 SCV002087511 likely pathogenic Familial aplasia of the vermis 2021-01-23 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004725212 SCV005337183 likely pathogenic RPGRIP1L-related disorder 2024-05-10 no assertion criteria provided clinical testing The RPGRIP1L c.3187G>T variant is predicted to result in premature protein termination (p.Glu1063*). To our knowledge, this variant has not been reported in individuals with RPGRIP1L-related disorders in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in RPGRIP1L are expected to be pathogenic. This variant is interpreted as likely 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.