Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704652 | SCV000833608 | pathogenic | Tuberous sclerosis 2 | 2019-06-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp82*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. 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 has been reported in an individual affected with tuberous sclerosis (PMID: 25900779). This variant is not present in population databases (ExAC no frequency). |