ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)

dbSNP: rs868538598
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 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.
CeGaT Center for Human Genetics Tuebingen RCV001854793 SCV004011103 pathogenic not provided 2023-05-01 criteria provided, single submitter clinical testing PRPF31: PVS1, PM2, PS4:Moderate
Dept Of Ophthalmology, Nagoya University RCV000225648 SCV004706339 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225648 SCV000282531 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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