Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000541726 | SCV000644686 | likely benign | Tuberous sclerosis 2 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377105 | SCV002690765 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-12 | criteria provided, single submitter | clinical testing | The p.V319M variant (also known as c.955G>A), located in coding exon 9 of the TSC2 gene, results from a G to A substitution at nucleotide position 955. The valine at codon 319 is replaced by methionine, an amino acid with highly similar 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. |