Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000458135 | SCV000544360 | pathogenic | Tuberous sclerosis 2 | 2016-06-27 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This sequence change creates a premature translational stop signal at codon 141 (p.Glu141*) of 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. |