Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233971 | SCV000285410 | benign | Tuberous sclerosis 2 | 2023-11-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003165608 | SCV003869056 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-17 | criteria provided, single submitter | clinical testing | The p.I1545V variant (also known as c.4633A>G), located in coding exon 35 of the TSC2 gene, results from an A to G substitution at nucleotide position 4633. The isoleucine at codon 1545 is replaced by valine, 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. |
Baylor Genetics | RCV003463660 | SCV004206815 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-10-04 | criteria provided, single submitter | clinical testing |