Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086979 | SCV000285458 | benign | Tuberous sclerosis 2 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000520770 | SCV000619769 | likely benign | not provided | 2023-01-23 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Genome- |
RCV001086979 | SCV002040289 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002347871 | SCV002647063 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-08-28 | criteria provided, single submitter | clinical testing | The p.P1781L variant (also known as c.5342C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5342. The proline at codon 1781 is replaced by leucine, an amino acid with 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. |