Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001475346 | SCV001679536 | likely benign | Epilepsy, childhood absence 2; Febrile seizures, familial, 8 | 2021-03-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350974 | SCV002645911 | uncertain significance | Inborn genetic diseases | 2018-11-29 | criteria provided, single submitter | clinical testing | The p.M169L variant (also known as c.505A>T), located in coding exon 4 of the GABRG2 gene, results from an A to T substitution at nucleotide position 505. The methionine at codon 169 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, leucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |