Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811502 | SCV000951770 | benign | Tuberous sclerosis 2 | 2022-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440756 | SCV002752428 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-11-16 | criteria provided, single submitter | clinical testing | The p.R978L variant (also known as c.2933G>T), located in coding exon 25 of the TSC2 gene, results from a G to T substitution at nucleotide position 2933. The arginine at codon 978 is replaced by leucine, an amino acid with 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. |