Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037835 | SCV001201267 | benign | Tuberous sclerosis 2 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002337101 | SCV002635940 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-01 | criteria provided, single submitter | clinical testing | The p.R1580Q variant (also known as c.4739G>A), located in coding exon 36 of the TSC2 gene, results from a G to A substitution at nucleotide position 4739. The arginine at codon 1580 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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. |