Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644130 | SCV000765820 | benign | Tuberous sclerosis 2 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001021539 | SCV001183166 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-26 | criteria provided, single submitter | clinical testing | The p.E1321D variant (also known as c.3963G>C), located in coding exon 32 of the TSC2 gene, results from a G to C substitution at nucleotide position 3963. The glutamic acid at codon 1321 is replaced by aspartic acid, an amino acid with highly 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. |
Genome- |
RCV000644130 | SCV002039800 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000122230 | SCV000086452 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |