Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382878 | SCV001581833 | pathogenic | Tuberous sclerosis 2 | 2020-07-09 | criteria provided, single submitter | clinical testing | 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 reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49676). This sequence change creates a premature translational stop signal (p.Gln404*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |
Prevention |
RCV003398612 | SCV004110411 | pathogenic | TSC2-related condition | 2023-03-10 | criteria provided, single submitter | clinical testing | The TSC2 c.1210C>T variant is predicted to result in premature protein termination (p.Gln404*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/49676/). Nonsense variants in TSC2 are expected to be pathogenic. This variant is interpreted as pathogenic. |
Tuberous sclerosis database |
RCV000042938 | SCV000066735 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |