Submissions for variant NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter)

dbSNP: rs907856232

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002549203	SCV003445202	pathogenic	Primary ciliary dyskinesia	2022-07-13	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 812415). This variant is also known as g.ORF15+420C>T; Q140X. This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 12402343, 31456290). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln725*) in the RPGR (ORF15) gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 428 amino acid(s) of the RPGR (ORF15) protein.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV003329357	SCV004036034	pathogenic	Retinitis pigmentosa 3	2023-09-25	criteria provided, single submitter	clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003198	SCV001161275	pathogenic	Retinitis pigmentosa	2019-06-23	no assertion criteria provided	research