Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
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). |