ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs)

dbSNP: rs2067166789
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091397 SCV001247420 pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091397 SCV001447972 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002468622 SCV002765098 likely pathogenic Retinitis pigmentosa 3 2023-02-15 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1_MOD, PS4_MOD, PM2_SUP, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV002557955 SCV003445074 pathogenic Primary ciliary dyskinesia 2023-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu877Glyfs*201) in the RPGR (ORF15) gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 276 amino acid(s) of the RPGR (ORF15) protein. 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. This premature translational stop signal has been observed in individuals with retinitis pigmentosa (PMID: 12402343, 18552978). This variant is also known as g.ORF15+875_876delGG. ClinVar contains an entry for this variant (Variation ID: 871437). 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.

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