Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001042973 | SCV001206683 | benign | Tuberous sclerosis 2 | 2023-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002400249 | SCV002706567 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-06-15 | criteria provided, single submitter | clinical testing | The p.A555P variant (also known as c.1663G>C), located in coding exon 15 of the TSC2 gene, results from a G to C substitution at nucleotide position 1663. The alanine at codon 555 is replaced by proline, 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. |
Baylor Genetics | RCV003461460 | SCV004206875 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-07-29 | criteria provided, single submitter | clinical testing |