Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520435 | SCV000618996 | uncertain significance | not provided | 2017-08-03 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the MED12 gene. The S917N variant has not been published as pathogenic or been reported as benign to our knowledge. The S917N variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S917N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. |