Total submissions: 5
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. |
Invitae | 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 |