Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537246 | SCV000644468 | likely benign | Tuberous sclerosis 2 | 2023-03-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003162359 | SCV003911443 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-11-09 | criteria provided, single submitter | clinical testing | The p.R1240C variant (also known as c.3718C>T), located in coding exon 30 of the TSC2 gene, results from a C to T substitution at nucleotide position 3718. The arginine at codon 1240 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well 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. |
Tuberous sclerosis database |
RCV000043283 | SCV000067085 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |