ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.2489AGG[2] (p.Glu832del)

dbSNP: rs765319100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002942647 SCV003272864 uncertain significance Primary ciliary dyskinesia 2024-11-18 criteria provided, single submitter clinical testing This variant, c.2495_2497del, results in the deletion of 1 amino acid(s) of the RPGR (ORF15) protein (p.Glu832del), but otherwise preserves the integrity of the reading frame. 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 has not been reported in the literature in individuals affected with RPGR (ORF15)-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV005045087 SCV005682884 uncertain significance X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 2024-03-12 criteria provided, single submitter clinical testing

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