ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) (rs137854359)

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
Athena Diagnostics Inc RCV000201021 SCV000255917 pathogenic Tuberous sclerosis 2 2013-06-10 criteria provided, single submitter clinical testing
Invitae RCV000201021 SCV001417430 pathogenic Tuberous sclerosis 2 2019-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr190*) 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 observed in individual(s) with tuberous sclerosis complex (PMID: 10735580). It is also known as 570insA in the literature. ClinVar contains an entry for this variant (Variation ID: 50038). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043304 SCV000067110 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.