Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045028 | SCV001208857 | benign | Tuberous sclerosis 2 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372787 | SCV002685653 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-06-28 | criteria provided, single submitter | clinical testing | The p.A289T variant (also known as c.865G>A), located in coding exon 9 of the TSC2 gene, results from a G to A substitution at nucleotide position 865. The alanine at codon 289 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. |