Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697993 | SCV000826631 | pathogenic | Tuberous sclerosis 2 | 2018-01-10 | criteria provided, single submitter | clinical testing | This variant has been reported in an individual affected with tuberous sclerosis complex (PMID: 28087349). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1333*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |