Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000186950 | SCV000240521 | uncertain significance | not provided | 2018-09-06 | criteria provided, single submitter | clinical testing | The G504S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G504S variant was not observed with any significant frequency in the Exome Aggregation Consortium (ExAC) data set. The G504S 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. Additionally, this amino acid substitution is not predicted to occur within the transmembrane region of the protein, where the vast majority of pathogenic missense variants have been identified in association with epilepsy (Steinlein et al., 2010). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Invitae | RCV000796150 | SCV000935648 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-01-03 | criteria provided, single submitter | clinical testing |