Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001852876 | SCV002244708 | pathogenic | Tuberous sclerosis 2 | 2023-02-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 49191). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This sequence change creates a premature translational stop signal (p.Gln699*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant is not present in population databases (gnomAD no frequency). |
Gene |
RCV003231112 | SCV003930259 | pathogenic | not provided | 2023-05-31 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25525159) |
Tuberous sclerosis database |
RCV000042447 | SCV000066238 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |