Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory of Medical Genetics, |
RCV002287220 | SCV002577439 | pathogenic | X-linked cone-rod dystrophy 1 | 2022-09-08 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Labcorp Genetics |
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. |