Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217944 | SCV001389807 | pathogenic | Tuberous sclerosis 2 | 2019-05-02 | criteria provided, single submitter | clinical testing | This variant has been observed in an individual affected with tuberous sclerosis (PMID: 10205261). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu850Trpfs*44) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |