Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226213 | SCV000285230 | likely benign | Tuberous sclerosis 2 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568157 | SCV000675696 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-04 | criteria provided, single submitter | clinical testing | The p.E405Q variant (also known as c.1213G>C), located in coding exon 11 of the TSC2 gene, results from a G to C substitution at nucleotide position 1213. The glutamic acid at codon 405 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available 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. |
Genome- |
RCV000226213 | SCV002041137 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |