Submissions for variant NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs)

dbSNP: rs1601918140

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000999392	SCV001155990	pathogenic	not provided	2024-11-01	criteria provided, single submitter	clinical testing	RPGR: PVS1:Strong, PM1, PM2, PP1:Moderate
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV000999392	SCV001761994	pathogenic	not provided	2021-06-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002549126	SCV003203703	pathogenic	Primary ciliary dyskinesia	2023-11-27	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu1028Glyfs*50) in the RPGR (ORF15) gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 125 amino acid(s) of the RPGR (ORF15) protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPGR (ORF15)-related conditions. ClinVar contains an entry for this variant (Variation ID: 810566). 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.