Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000993366 | SCV001146275 | pathogenic | not provided | 2018-12-18 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. |
| Gene |
RCV000993366 | SCV002498862 | pathogenic | not provided | 2022-03-22 | criteria provided, single submitter | clinical testing | Reported previously in patients with a clinical diagnosis of TSC (Dabora et al., 2001; Rendtorff et al., 2005); 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 11112665, 16114042, 15798777, 34680378, 30747827) |
| Invitae | RCV003511983 | SCV004296647 | pathogenic | Tuberous sclerosis 2 | 2023-01-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49174). This premature translational stop signal has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 11112665). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln595*) 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). |
| Tuberous sclerosis database |
RCV000042430 | SCV000066221 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |