Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000644081 | SCV000765771 | pathogenic | Tuberous sclerosis 2 | 2017-11-14 | criteria provided, single submitter | clinical testing | This variant has been reported to be de novo in an individual affected with tuberous sclerosis (PMID: 9881533) and has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49142). 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln371*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |
| Gene |
RCV000760655 | SCV000890547 | pathogenic | not provided | 2018-07-27 | criteria provided, single submitter | clinical testing | The Q371X nonsense variant in the TSC2 gene has been reported previously in association with TSC, including as a de novo change (Rendtorff et al., 2005 [reported as Q370X due to the use of alternate nomenclature]; Nallasamy et al., 2017; TSC2 LOVD). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the Q371X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, the Q371X variant is considered a pathogenic variant. |
| Genome- |
RCV000644081 | SCV002040928 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Tuberous sclerosis database |
RCV000042397 | SCV000066187 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |