Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000989441 | SCV001139767 | likely pathogenic | Tuberous sclerosis 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000989441 | SCV001409691 | pathogenic | Tuberous sclerosis 2 | 2019-10-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the TSC2 protein. Other variant(s) that disrupt this region (p.Trp1740*) have been determined to be pathogenic (PMID: 25782670, 12136241, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This sequence change results in a frameshift in the TSC2 gene (p.Ser1738Profs*88). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 70 amino acids of the TSC2 protein and extend the protein by an additional 18 amino acids. 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). |
Genome- |
RCV000989441 | SCV002041024 | likely pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |