ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs)

dbSNP: rs2067179633
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091402 SCV001247425 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091402 SCV001446902 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001724246 SCV001950360 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Arg826GlyfsTer8 variant in RPGR 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.
PreventionGenetics, part of Exact Sciences RCV001091402 SCV002759661 pathogenic not provided 2016-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003537473 SCV004299792 pathogenic Primary ciliary dyskinesia 2024-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg826Glyfs*8) in the RPGR (ORF15) gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 327 amino acid(s) of the RPGR (ORF15) protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 12402343, 28322733, 28863407, 32000842). This variant is also known as g.ORF15+723_724delAG. ClinVar contains an entry for this variant (Variation ID: 871440). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004813740 SCV005069599 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing

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