ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.1496T>C (p.Ile499Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337942 SCV004048391 uncertain significance Macular degeneration, X-linked atrophic criteria provided, single submitter clinical testing The missense variant c.1496T>C (p.Ile499Thr) in RPGR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ile499Thr variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ile at position 499 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Ile499Thr in RPGR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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