Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704181 | SCV000833120 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332498 | SCV002627937 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | The p.V391A variant (also known as c.1172T>C), located in coding exon 11 of the TSC2 gene, results from a T to C substitution at nucleotide position 1172. The valine at codon 391 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |