Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001040318 | SCV001203882 | pathogenic | Tuberous sclerosis 2 | 2019-01-19 | criteria provided, single submitter | clinical testing | 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 not been reported in the literature in individuals with TSC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro1263Thrfs*59) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |
| ARUP Laboratories, |
RCV003736963 | SCV004564281 | likely pathogenic | not provided | 2023-01-06 | criteria provided, single submitter | clinical testing | The TSC2 c.3786dup; p.Pro1263ThrfsTer59 variant (rs2090170656), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 838722). This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be likely pathogenic. |