Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873551 | SCV001015562 | benign | Tuberous sclerosis 2 | 2023-10-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434133 | SCV002748283 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-31 | criteria provided, single submitter | clinical testing | The p.K930E variant (also known as c.2788A>G), located in coding exon 24 of the TSC2 gene, results from an A to G substitution at nucleotide position 2788. The lysine at codon 930 is replaced by glutamic acid, an amino acid with 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. |