Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760363 | SCV000890225 | pathogenic | not provided | 2022-07-19 | 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); This variant is associated with the following publications: (PMID: 28968464, 25525159, 25498131, 25782670, 15798777, 17304050, 11112665, 31927531, 10205261, Wang2020[Case Report], 35712104, 26540169, 27535533) |
Invitae | RCV001036695 | SCV001200072 | pathogenic | Tuberous sclerosis 2 | 2021-04-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1229*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has been observed in individuals affected with tuberous sclerosis complex (PMID: 1112665, 28968464, Invitae). ClinVar contains an entry for this variant (Variation ID: 49270). This variant is not present in population databases (ExAC no frequency). |
Genome- |
RCV001036695 | SCV002040980 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042529 | SCV000066320 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |