Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069408 | SCV001234572 | benign | Tuberous sclerosis 2 | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003353149 | SCV004057603 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-07 | criteria provided, single submitter | clinical testing | The p.E399K variant (also known as c.1195G>A), located in coding exon 11 of the TSC2 gene, results from a G to A substitution at nucleotide position 1195. The glutamic acid at codon 399 is replaced by lysine, an amino acid with similar properties. This amino acid position is not 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. |
Gene |
RCV003442199 | SCV004169014 | uncertain significance | not provided | 2023-11-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115) |
Baylor Genetics | RCV003462611 | SCV004206835 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-09-24 | criteria provided, single submitter | clinical testing |