Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236628 | SCV001409360 | uncertain significance | Tuberous sclerosis 2 | 2019-08-30 | criteria provided, single submitter | clinical testing | 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 variant, c.4637_4660del, results in the deletion of 8 amino acids of the TSC2 protein (p.Ala1546_Gln1554delinsGlu), but otherwise preserves the integrity of the reading frame. This variant disrupts the p.Glu1552 amino acid residue in TSC2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11112665, 22903760, 23389244). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |