Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548111 | SCV000644280 | benign | Tuberous sclerosis 2 | 2023-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003302845 | SCV004001434 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-10 | criteria provided, single submitter | clinical testing | The p.V591I variant (also known as c.1771G>A), located in coding exon 16 of the TSC2 gene, results from a G to A substitution at nucleotide position 1771. The valine at codon 591 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not 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. |