Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069522 | SCV001234695 | likely benign | Tuberous sclerosis 1 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002320347 | SCV002607865 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-02 | criteria provided, single submitter | clinical testing | The p.S1039R variant (also known as c.3115A>C), located in coding exon 21 of the TSC1 gene, results from an A to C substitution at nucleotide position 3115. The serine at codon 1039 is replaced by arginine, an amino acid with dissimilar 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. |