Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521786 | SCV000621241 | uncertain significance | not provided | 2017-10-03 | criteria provided, single submitter | clinical testing | The K1209E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K1209E variant is observed in 1/15256 (0.007%) alleles from individuals of African background (Lek et al., 2016). The K1209E 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. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |