Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000440443 | SCV000524211 | likely pathogenic | not provided | 2016-02-11 | criteria provided, single submitter | clinical testing | The G550R variant in the SLC6A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G550R variant was not observed in approximately 6,500 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 G550R 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 in the 12th helical transmembrane domain that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The G550R variant is a strong candidate for a pathogenic variant, however, the possibility it may be a rare benign variant cannot be excluded. |
| Labcorp Genetics |
RCV003444231 | SCV002112759 | uncertain significance | Epilepsy with myoclonic atonic seizures | 2021-09-01 | criteria provided, single submitter | clinical testing |