ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4439T>A (p.Leu1480Ter)

dbSNP: rs45446594
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
Invitae RCV001852900 SCV002238656 pathogenic Tuberous sclerosis 2 2021-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49926). This premature translational stop signal has been observed in individual(s) with tuberous Sclerosis (PMID: 11112665). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1480*) 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).
Tuberous sclerosis database (TSC2) RCV000043193 SCV000066994 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.