Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802374 | SCV000942201 | benign | Tuberous sclerosis 2 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000827504 | SCV000969155 | likely benign | not provided | 2018-05-24 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genome- |
RCV000802374 | SCV002039537 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002386431 | SCV002693109 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-03 | criteria provided, single submitter | clinical testing | The p.R451K variant (also known as c.1352G>A), located in coding exon 12 of the TSC2 gene, results from a G to A substitution at nucleotide position 1352. The arginine at codon 451 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is not 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. |