ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1903_1904delAC (rs118203597)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000005406 SCV000641531 pathogenic Tuberous sclerosis 1 2019-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr635Argfs*52) in the TSC1 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 particular variant has been reported in individuals affected with tuberous sclerosis complex (TSC) (PMID:9242607,10053179) and individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 5100). This variant is also known as 2122delAC in the literature. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000713907 SCV000844548 pathogenic not provided 2017-11-22 criteria provided, single submitter clinical testing
OMIM RCV000005406 SCV000025588 pathogenic Tuberous sclerosis 1 1999-03-04 no assertion criteria provided literature only
Tuberous sclerosis database (TSC1) RCV000042102 SCV000065885 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000042102 SCV000065886 not provided Tuberous sclerosis syndrome no assertion provided curation
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV000005406 SCV001370497 pathogenic Tuberous sclerosis 1 2020-06-09 no assertion criteria provided clinical testing

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.