Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001225142 | SCV001397381 | likely pathogenic | Tuberous sclerosis 2 | 2019-07-03 | criteria provided, single submitter | clinical testing | This variant, c.4823_4825delACT, results in the deletion of 1 amino acid(s) of the TSC2 protein (p.Tyr1608del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with tuberous sclerosis complex (PMID: 11112665, 22867869, 15798777, 25782670) and has also been reported to be de novo in individuals affected with tuberous sclerosis complex in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49833). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Tuberous sclerosis database |
RCV000043099 | SCV000066898 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |