Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517826 | SCV000615901 | pathogenic | not provided | 2017-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000644219 | SCV000765910 | likely pathogenic | Tuberous sclerosis 2 | 2023-06-23 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 448728). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1250Glnfs*71) 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). |
Genome- |
RCV000644219 | SCV002040983 | likely pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003424075 | SCV004116886 | pathogenic | TSC2-related condition | 2023-10-13 | criteria provided, single submitter | clinical testing | The TSC2 c.3747_3748delGT variant is predicted to result in a frameshift and premature protein termination (p.Tyr1250Glnfs*71). 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. It is interpreted as likely pathogenic and pathogenic in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/448728/). Frameshift variants in TSC2 are expected to be pathogenic. This variant is interpreted as pathogenic. |