Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062863 | SCV001227686 | pathogenic | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2023-09-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala824Ilefs*11) 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 present in population databases (rs745741473, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 857229). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001075703 | SCV001241331 | likely pathogenic | Retinal dystrophy | 2019-04-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001800948 | SCV002045164 | pathogenic | Leber congenital amaurosis 6 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001800949 | SCV002045175 | pathogenic | Cone-rod dystrophy 13 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526076 | SCV005039523 | pathogenic | Leber congenital amaurosis | 2024-03-11 | criteria provided, single submitter | clinical testing | Variant summary: RPGRIP1 c.2465_2468dupCATA (p.Ala824IlefsX11) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 249180 control chromosomes. c.2465_2468dupCATA has been reported in the literature in individuals affected with Leber Congenital Amaurosis. These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. ClinVar contains an entry for this variant (Variation ID: 857229). Based on the evidence outlined above, the variant was classified as pathogenic. |