Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235851 | SCV001408557 | pathogenic | not provided | 2022-03-09 | criteria provided, single submitter | clinical testing | 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). Therefore, variants that disrupt this region are expected to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 437951). This premature translational stop signal has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 28041643). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr736Asnfs*4) in the RP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1421 amino acid(s) of the RP1 protein. |
NIHR Bioresource Rare Diseases, |
RCV000504862 | SCV000598684 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research |