ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2501del (p.Glu834fs)

dbSNP: rs2067178120
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268364 SCV001447238 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568716 SCV003444600 pathogenic Primary ciliary dyskinesia 2023-06-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu834Glyfs*255) in the RPGR (ORF15) gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 319 amino acid(s) of the RPGR (ORF15) protein. This premature translational stop signal has been observed in individuals with X-linked retinitis pigmentosa (PMID: 12657579, 18552978, 30193314). This variant is also known as g.ORF15+748delA. ClinVar contains an entry for this variant (Variation ID: 975147). This variant disrupts a region of the RPGR (ORF15) protein in which other variant(s) (p.Leu1130Lysfs*13) have been determined to be pathogenic (PMID: 22264887; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814028 SCV005072239 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001251609 SCV001427309 pathogenic Retinitis pigmentosa 3 no assertion criteria provided clinical testing

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