Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493232 | SCV000582128 | likely benign | not provided | 2019-05-03 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001064683 | SCV001229596 | benign | Tuberous sclerosis 2 | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001064683 | SCV002041127 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431439 | SCV002731868 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-08 | criteria provided, single submitter | clinical testing | The p.I365V variant (also known as c.1093A>G), located in coding exon 10 of the TSC2 gene, results from an A to G substitution at nucleotide position 1093. The isoleucine at codon 365 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |