Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644171 | SCV000765861 | benign | Tuberous sclerosis 2 | 2022-11-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331190 | SCV002629121 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-09-18 | criteria provided, single submitter | clinical testing | The p.P1468L variant (also known as c.4403C>T), located in coding exon 33 of the TSC2 gene, results from a C to T substitution at nucleotide position 4403. The proline at codon 1468 is replaced by leucine, an amino acid with similar properties. This nucleotide position is well conserved in available vertebrate species. 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. |