ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1210C>T (p.Gln404Ter)

dbSNP: rs45457701
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382878 SCV001581833 pathogenic Tuberous sclerosis 2 2020-07-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49676). This sequence change creates a premature translational stop signal (p.Gln404*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product.
PreventionGenetics, part of Exact Sciences RCV003398612 SCV004110411 pathogenic TSC2-related condition 2023-03-10 criteria provided, single submitter clinical testing The TSC2 c.1210C>T variant is predicted to result in premature protein termination (p.Gln404*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as pathogenic in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/49676/). Nonsense variants in TSC2 are expected to be pathogenic. This variant is interpreted as pathogenic.
Tuberous sclerosis database (TSC2) RCV000042938 SCV000066735 not provided Tuberous sclerosis syndrome no assertion provided curation

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.