Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520176 | SCV000619583 | uncertain significance | not provided | 2022-09-30 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001085805 | SCV000644445 | benign | Tuberous sclerosis 2 | 2023-12-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020414 | SCV001181890 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-20 | criteria provided, single submitter | clinical testing | The p.P1162L variant (also known as c.3485C>T), located in coding exon 29 of the TSC2 gene, results from a C to T substitution at nucleotide position 3485. The proline at codon 1162 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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. |
Genome- |
RCV001085805 | SCV002039757 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |