Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000726914 | SCV000321689 | uncertain significance | not provided | 2016-08-10 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the GABRA1 gene. The P409S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P409S variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The P409S 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 that is conserved in mammals; however, Serine is observed at this position in evolution. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Labcorp Genetics |
RCV000468868 | SCV000547393 | benign | Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
| Eurofins Ntd Llc |
RCV000726914 | SCV000704135 | uncertain significance | not provided | 2016-12-28 | criteria provided, single submitter | clinical testing |