Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222211 | SCV001394302 | likely benign | Tuberous sclerosis 2 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163715 | SCV003911463 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-31 | criteria provided, single submitter | clinical testing | The p.P1517L variant (also known as c.4550C>T), located in coding exon 34 of the TSC2 gene, results from a C to T substitution at nucleotide position 4550. The proline at codon 1517 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |