ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1959del (p.Glu654fs)

dbSNP: rs2151126163
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001951058 SCV002238871 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2020-12-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RPGRIP1L-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu654Asnfs*45) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409).
Fulgent Genetics, Fulgent Genetics RCV005016950 SCV005642086 likely pathogenic Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-04-23 criteria provided, single submitter 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.