Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522221 | SCV000619129 | uncertain significance | not provided | 2018-09-28 | criteria provided, single submitter | clinical testing | The G2141E variant in the MED12 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G2141E variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G2141E 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 across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G2141E as a variant of uncertain significance. |