ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) (rs796053509)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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 2018-08-10 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 207780). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.