Submissions for variant NM_001034853.2(RPGR):c.2481AGAGGA[1] (p.Glu831_Glu832del)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003538239	SCV004336369	uncertain significance	Primary ciliary dyskinesia	2023-06-27	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with RPGR (ORF15)-related conditions. 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 variant, c.2487_2492del, results in the deletion of 2 amino acid(s) of the RPGR (ORF15) protein (p.Glu831_Glu832del), but otherwise preserves the integrity of the reading frame.
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center	RCV003985118	SCV004801394	uncertain significance	X-linked cone-rod dystrophy 1	2024-03-19	criteria provided, single submitter	clinical testing