ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287220 SCV002577439 pathogenic X-linked cone-rod dystrophy 1 2022-09-08 criteria provided, single submitter clinical testing PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV003653594 SCV004435226 pathogenic Primary ciliary dyskinesia 2023-02-05 criteria provided, single submitter clinical testing 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. This sequence change creates a premature translational stop signal (p.Gln717*) in the RPGR (ORF15) gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 436 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 individual(s) with retinitis pigmentosa (PMID: 35432464). ClinVar contains an entry for this variant (Variation ID: 1708067). For these reasons, this variant has been classified as Pathogenic.

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