Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522806 | SCV000621442 | uncertain significance | not provided | 2017-10-06 | criteria provided, single submitter | clinical testing | The R3P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R3P variant is not observed at a significant frequency 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. However, this substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. |