Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Australian Inherited Retinal Disease Registry & DNA Bank, |
RCV000659269 | SCV000778532 | uncertain significance | Leber congenital amaurosis 1 | 2017-11-30 | criteria provided, single submitter | research | Detected in an unaffected mother, and in an affected individual with another genetic cause for disease; not considered primary cause of disease |
Invitae | RCV003679012 | SCV004410087 | pathogenic | not provided | 2022-11-21 | criteria provided, single submitter | clinical testing | This variant disrupts the C-terminus of the RP1 protein. Many variants that disrupt this region have been reported in individuals with either autosomal dominant or autosomal recessive retinitis pigmentosa (PMID: 11527933, 19933189, 29425069, 30027431, 33681214). Therefore, variants that disrupt this region are expected to be disease-causing. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 547180). This variant has not been reported in the literature in individuals affected with RP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala423Asnfs*11) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1734 amino acid(s) of the RP1 protein. |