Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000201071 | SCV000255889 | likely pathogenic | Tuberous sclerosis 2 | 2015-07-09 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000201071 | SCV000644403 | pathogenic | Tuberous sclerosis 2 | 2017-05-03 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with proline at codon 1032 of the TSC2 protein (p.Arg1032Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in multiple individuals in the TSC2 Leiden Open-source Variation Database, and has been shown to arise de novo in two individuals affected with tuberous sclerosis complex (TSC) (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49241). An experimental study has shown that this missense change impacts the TSC1-TSC2 complex function and prevents TSC complex-dependent inhibition of mTOR activity (PMID: 21309039). For these reasons, this variant has been classified as Pathogenic. |
| Tuberous sclerosis database |
RCV000042500 | SCV000066291 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |