Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201083 | SCV000255895 | pathogenic | Tuberous sclerosis 2 | 2012-06-27 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001195892 | SCV001366316 | pathogenic | Lymphangiomyomatosis | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5. |
Invitae | RCV000201083 | SCV001592670 | pathogenic | Tuberous sclerosis 2 | 2022-06-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn1233*) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 16981987). ClinVar contains an entry for this variant (Variation ID: 49539). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000201083 | SCV002040982 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003221794 | SCV003918514 | pathogenic | not provided | 2022-10-13 | 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; Reported in a patient with tuberous sclerosis complex in published literature; however, familial segregation information was not provided (Hung et al., 2006); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 16981987, 15798777) |
Tuberous sclerosis database |
RCV000042799 | SCV000066595 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |