ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4351del (p.Arg1451fs) (rs397514939)

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 RCV000550782 SCV000644532 pathogenic Tuberous sclerosis 2 2017-05-03 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide in exon 34 of the TSC2 mRNA (c.4351delC), causing a frameshift at codon 1451. This creates a premature translational stop signal (p.Arg1451Alafs*25) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic. This particular variant has been reported  in individuals affected with tuberous sclerosis in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000055122 SCV000083340 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.