Submissions for variant NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs)

dbSNP: rs1569235565

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV001075840	SCV001241479	pathogenic	Retinal dystrophy	2019-08-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001862855	SCV002234302	pathogenic	Primary ciliary dyskinesia	2024-01-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu1010Glyfs*68) in the RPGR (ORF15) gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 143 amino acid(s) of the RPGR (ORF15) protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with X-linked retinitis pigmentosa (PMID: 16969763). ClinVar contains an entry for this variant (Variation ID: 867211). 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.
PreventionGenetics, part of Exact Sciences	RCV002464382	SCV002759692	pathogenic	not provided	2018-11-27	criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001251542	SCV003845357	pathogenic	Retinitis pigmentosa 3	2023-03-29	criteria provided, single submitter	clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV001075840	SCV005069234	pathogenic	Retinal dystrophy	2013-01-01	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001251542	SCV001427344	pathogenic	Retinitis pigmentosa 3		no assertion criteria provided	clinical testing