Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442144 | SCV000529544 | uncertain significance | not provided | 2022-09-08 | 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 | RCV001088704 | SCV000765801 | likely benign | Tuberous sclerosis 2 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001088704 | SCV002040204 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328973 | SCV002634195 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-11 | criteria provided, single submitter | clinical testing | The p.P1517T variant (also known as c.4549C>A), located in coding exon 34 of the TSC2 gene, results from a C to A substitution at nucleotide position 4549. The proline at codon 1517 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |