Submissions for variant NM_001034853.2(RPGR):c.2792del (p.Glu931fs)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003050605	SCV003444560	pathogenic	Primary ciliary dyskinesia	2023-07-19	criteria provided, single submitter	clinical testing	The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. 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: 2138533). This variant is also known as ORF15+1039delA. This premature translational stop signal has been observed in individual(s) with X-linked retinitis pigmentosa (PMID: 16969763). This sequence change creates a premature translational stop signal (p.Glu931Glyfs*158) in the RPGR (ORF15) gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 222 amino acid(s) of the RPGR (ORF15) protein.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV003156398	SCV003845947	pathogenic	Retinitis pigmentosa 3	2023-03-29	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004817203	SCV005068635	pathogenic	Retinal dystrophy	2021-01-01	criteria provided, single submitter	clinical testing