Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000230846 | SCV000285326 | likely benign | Tuberous sclerosis 2 | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001018163 | SCV001179359 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-20 | criteria provided, single submitter | clinical testing | The p.Q1010E variant (also known as c.3028C>G), located in coding exon 26 of the TSC2 gene, results from a C to G substitution at nucleotide position 3028. The glutamine at codon 1010 is replaced by glutamic acid, 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. |
Gene |
RCV001551091 | SCV001771522 | uncertain significance | not provided | 2019-11-14 | 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 |
Genome- |
RCV000230846 | SCV002039709 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |