Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000459248 | SCV000544535 | benign | Tuberous sclerosis 2 | 2023-02-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411435 | SCV002719285 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-07-11 | criteria provided, single submitter | clinical testing | The p.C65R variant (also known as c.193T>C), located in coding exon 2 of the TSC2 gene, results from a T to C substitution at nucleotide position 193. The cysteine at codon 65 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |