Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201207 | SCV000255902 | pathogenic | Tuberous sclerosis 2 | 2014-11-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201207 | SCV003443034 | pathogenic | Tuberous sclerosis 2 | 2022-10-27 | 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: 217252). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 16835931). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys16*) 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). |
Gene |
RCV003318560 | SCV004022760 | pathogenic | not provided | 2023-07-31 | criteria provided, single submitter | clinical testing | A 1 base pair insertion at position 45-46 was reported in an individual with tuberous sclerosis complex in published literature, however the exact variant nomenclature was not provided (Merritt et al., 2006); 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); This variant is associated with the following publications: (PMID: 23661441, 16835931) |