Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701877 | SCV000830700 | benign | Tuberous sclerosis 2 | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332482 | SCV002631280 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-03 | criteria provided, single submitter | clinical testing | The p.R1477K variant (also known as c.4430G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4430. The arginine at codon 1477 is replaced by lysine, 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. |