Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802862 | SCV000942708 | pathogenic | Tuberous sclerosis 2 | 2018-07-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1610*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC2-related disease. However, a different variant (c.4830G>A) giving rise to the same protein effect observed here (p.Trp1610*) has been reported in an individual affected with tuberous sclerosis complex (PMID: 16877242). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic. |