Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000412744 | SCV000492121 | uncertain significance | not specified | 2016-12-13 | criteria provided, single submitter | clinical testing | The A457T variant in the CHRNA4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A457T variant was not observed in approximately 6200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A457T 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. We interpret A457T as a variant of uncertain significance. |
Revvity Omics, |
RCV003144250 | SCV003832053 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2022-11-04 | criteria provided, single submitter | clinical testing |