Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543917 | SCV000644609 | benign | Tuberous sclerosis 2 | 2023-04-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350297 | SCV002646600 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-15 | criteria provided, single submitter | clinical testing | The p.V1711L variant (also known as c.5131G>C), located in coding exon 39 of the TSC2 gene, results from a G to C substitution at nucleotide position 5131. The valine at codon 1711 is replaced by leucine, an amino acid with highly similar properties. This alteration has been identified in an individual diagnosed with colorectal cancer at age 28 from a cohort of 80 patients with gastrointestinal cancer or polyposis (Yalcintepe S et al. Tumori, 2020 Dec;106:510-517). This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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. |