Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802000 | SCV000941806 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307466 | SCV003988654 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-10 | criteria provided, single submitter | clinical testing | The p.R115C variant (also known as c.343C>T), located in coding exon 4 of the TSC2 gene, results from a C to T substitution at nucleotide position 343. The arginine at codon 115 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |