Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000201043 | SCV000255897 | pathogenic | not provided | 2019-10-29 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
| Labcorp Genetics |
RCV001852880 | SCV002242490 | pathogenic | Tuberous sclerosis 2 | 2021-03-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val1372Glyfs*41) 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 (ExAC no frequency). This variant has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 17304050). For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV000201043 | SCV003919673 | pathogenic | not provided | 2023-04-20 | criteria provided, single submitter | clinical testing | Frameshift 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); This variant is associated with the following publications: (PMID: 17304050) |
| Tuberous sclerosis database |
RCV000042543 | SCV000066336 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |