Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000216060 | SCV000274031 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-05-07 | criteria provided, single submitter | clinical testing | The p.E420D variant (also known as c.1260G>T), located in coding exon 12 of the TSC2 gene, results from a G to T substitution at nucleotide position 1260. The glutamic acid at codon 420 is replaced by aspartic acid, 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. |