Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460265 | SCV000544538 | benign | Tuberous sclerosis 2 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002365619 | SCV002625698 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-06 | criteria provided, single submitter | clinical testing | The p.T1247A variant (also known as c.3739A>G), located in coding exon 30 of the TSC2 gene, results from an A to G substitution at nucleotide position 3739. The threonine at codon 1247 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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. |