Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201075 | SCV000255849 | pathogenic | Tuberous sclerosis 1 | 2014-05-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090691 | SCV001246369 | pathogenic | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201075 | SCV001395607 | pathogenic | Tuberous sclerosis 1 | 2023-09-01 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with TSC1-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 48779). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu478Lysfs*53) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). |
Gene |
RCV001090691 | SCV001767650 | pathogenic | not provided | 2022-12-16 | 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27535533, 17304050) |
Genome- |
RCV000201075 | SCV002041042 | pathogenic | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000201075 | SCV002581019 | pathogenic | Tuberous sclerosis 1 | 2022-06-28 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042026 | SCV000065808 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |