Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001235987 | SCV001408698 | pathogenic | Tuberous sclerosis 2 | 2019-08-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1554*) 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). 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 observed in individual(s) affected with tuberous sclerosis (PMID: 26540169). |
Gene |
RCV003317462 | SCV004021658 | pathogenic | not provided | 2023-07-21 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: Peron2021[thesis], 26540169, 32313033) |