Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000472097 | SCV000544322 | likely benign | Tuberous sclerosis 2 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418363 | SCV002731063 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-12 | criteria provided, single submitter | clinical testing | The c.2133C>T variant (also known as p.G711G), located in coding exon 19 of the TSC2 gene, results from a C to T substitution at nucleotide position 2133. This nucleotide substitution does not change the glycine at codon 711. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |