Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189958 | SCV000243629 | likely benign | not specified | 2017-11-17 | 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. |
Invitae | RCV000229518 | SCV000285397 | benign | Tuberous sclerosis 2 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000229518 | SCV002041220 | benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327021 | SCV002633229 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-04-08 | criteria provided, single submitter | clinical testing | The p.K144R variant (also known as c.431A>G), located in coding exon 4 of the TSC2 gene, results from an A to G substitution at nucleotide position 431. The lysine at codon 144 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly 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. |