Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521253 | SCV000620960 | uncertain significance | not provided | 2017-09-21 | criteria provided, single submitter | clinical testing | The S19C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S19C variant is not observed in large population cohorts (Lek et al., 2016). This 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position that is not conserved. |