Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822377 | SCV000963177 | benign | Tuberous sclerosis 2 | 2023-10-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336160 | SCV002642762 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-02 | criteria provided, single submitter | clinical testing | The p.K1689E variant (also known as c.5065A>G), located in coding exon 38 of the TSC2 gene, results from an A to G substitution at nucleotide position 5065. The lysine at codon 1689 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well 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. |
Tuberous sclerosis database |
RCV000042701 | SCV000066496 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |