Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255680 | SCV000321735 | uncertain significance | not provided | 2015-03-14 | criteria provided, single submitter | clinical testing | The S1536T variant in the GLI3 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The S1536T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project; however, data from ethnically-matched control individuals were not available to assess for a population-specific benign variant. The S1536T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar 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 S1536T as a variant of unknown significance. |