Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001230019 | SCV001402486 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327547 | SCV002628790 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-26 | criteria provided, single submitter | clinical testing | The p.A1467S variant (also known as c.4399G>T), located in coding exon 33 of the TSC2 gene, results from a G to T substitution at nucleotide position 4399. The alanine at codon 1467 is replaced by serine, 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. |