Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380810 | SCV001578990 | pathogenic | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2020-08-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg278*) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 156387). Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). For these reasons, this variant has been classified as Pathogenic. |
Molecular Diagnostics Laboratory, |
RCV000144469 | SCV000189604 | pathogenic | Leber congenital amaurosis 6 | 2014-09-18 | no assertion criteria provided | clinical testing | |
Laboratory of Genetics in Ophthalmology, |
RCV000144469 | SCV001438574 | pathogenic | Leber congenital amaurosis 6 | no assertion criteria provided | research |