Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470486 | SCV000544488 | likely benign | Tuberous sclerosis 2 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002323694 | SCV002610156 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-27 | criteria provided, single submitter | clinical testing | The p.A1053V variant (also known as c.3158C>T), located in coding exon 27 of the TSC2 gene, results from a C to T substitution at nucleotide position 3158. The alanine at codon 1053 is replaced by valine, an amino acid with similar properties. This amino acid position is 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. |