Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059000 | SCV001223603 | pathogenic | Tuberous sclerosis 2 | 2019-01-14 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with TSC2-related conditions. 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.Gln992Thrfs*14) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |