Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000684973 | SCV000812440 | benign | Tuberous sclerosis 2 | 2022-07-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163091 | SCV003859976 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-15 | criteria provided, single submitter | clinical testing | The p.F1275L variant (also known as c.3825C>A), located in coding exon 31 of the TSC2 gene, results from a C to A substitution at nucleotide position 3825. The phenylalanine at codon 1275 is replaced by leucine, an amino acid with highly 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. |