Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190069 | SCV000243744 | pathogenic | not provided | 2016-10-01 | criteria provided, single submitter | clinical testing | p.Trp1060Ter (TGG>TGA): c.3180 G>A in exon 28 of the TSC2 gene (NM_000548.3) The variant is found in TUBSC-EPIV2 panel(s). The W1060X nonsense mutation in the TSC2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This mutation has not been reported previously to our knowledge. This variant is found in TSC2 panel(s). |
Invitae | RCV000801616 | SCV000941400 | pathogenic | Tuberous sclerosis 2 | 2023-06-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 207780). This premature translational stop signal has been observed in individual(s) with clinical features of TSC2-related conditions (PMID: 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1060*) 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). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000801616 | SCV002040968 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |