Table 1 A direct comparison of the novel mutation, p.Thr138Asn, and a known pathogenic variant in RS1. Both variants were analysed with the same bioinformatic pipeline and have been scored by the same computational tools
From: Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
Variant | Nucleotide | Protein | DBSNP ID | MetaLR | M-CAP | REVEL | ClinVar Report |
|---|---|---|---|---|---|---|---|
Novel | c.413C > A | p.Thr138Asn | None | 0.9742 | 0.8775 | 0.929 | None |
Known | c.636G > A | p.Arg209His | rs281865362 | 0.9446 | 0.9233 | 0.796 | Pathogenic |