Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000482620 | SCV000573188 | uncertain significance | not provided | 2017-02-24 | criteria provided, single submitter | clinical testing | The S993A variant in the RANBP2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S993A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S993A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S993A as a variant of uncertain significance. |