ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter)

dbSNP: rs1371805993
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 RCV001862727 SCV002236128 pathogenic Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-08-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln979*) 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). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis and retinitis pigmentosa (PMID: 29178642, 31456290). ClinVar contains an entry for this variant (Variation ID: 812426). For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003210 SCV001161288 pathogenic Retinitis pigmentosa 2019-06-23 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.