Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Broad Center for Mendelian Genomics, |
RCV001723811 | SCV001950334 | likely pathogenic | Retinitis pigmentosa | 2021-04-01 | criteria provided, single submitter | curation | The p.Arg354Ter variant in PRPF31 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab. |
Labcorp Genetics |
RCV001854793 | SCV002133225 | pathogenic | not provided | 2023-12-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg354*) in the PRPF31 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPF31 are known to be pathogenic (PMID: 18317597, 23950152). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal dominant retinitis pigmentosa (PMID: 23950152, 30582903). ClinVar contains an entry for this variant (Variation ID: 236425). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001854793 | SCV004011103 | pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | PRPF31: PVS1, PM2, PS4:Moderate |
Dept Of Ophthalmology, |
RCV000225648 | SCV004706339 | pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Centre for Genomic Medicine, |
RCV000225648 | SCV000282531 | likely pathogenic | Retinal dystrophy | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004757175 | SCV005355976 | pathogenic | PRPF31-related disorder | 2024-06-21 | no assertion criteria provided | clinical testing | The PRPF31 c.1060C>T variant is predicted to result in premature protein termination (p.Arg354*). This variant has been reported in multiple individuals with autosomal dominant retinitis pigmentosa (see for examples Sullivan et al. 2013. PubMed ID: 23950152; Kiser et al. 2018. PubMed ID: 30582903; Table S2, Liu et al. 2020. PubMed ID: 33090715; Table S4, Panneman et al. 2023. PubMed ID: 36819107). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in PRPF31 are expected to be pathogenic. Given the evidence, we interpret this variant as pathogenic. |