Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222030 | SCV001394109 | likely benign | Tuberous sclerosis 2 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436859 | SCV002751460 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-04 | criteria provided, single submitter | clinical testing | The p.A100T variant (also known as c.298G>A), located in coding exon 3 of the TSC2 gene, results from a G to A substitution at nucleotide position 298. The alanine at codon 100 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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. |