ClinVar

Description

For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 979009). This variant is also known as c.4241_4242del. This premature translational stop signal has been observed in individual(s) with autosomal recessive RP1-related conditions (PMID: 22334370, 24265693, 30913292). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs767436678, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.His1414Glnfs*5) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 743 amino acid(s) of the RP1 protein.