ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4005+4_4005+7dup

dbSNP: rs796053519
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190088 SCV000243763 uncertain significance not specified 2014-09-24 criteria provided, single submitter clinical testing c.4005+4_4005+7dupAGTG: IVS33+4_IVS33+7dupAGTG in intron 33 of the TSC2 gene (NM_000548.3) c.4005+4_4005+7dupAGTG variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.4005+4_4005+7dupAGTG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.4005+4_4005+7dupAGTG creates a cryptic donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Invitae RCV001409923 SCV001611959 likely benign Tuberous sclerosis 2 2023-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001409923 SCV002039806 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003468876 SCV004205100 uncertain significance Isolated focal cortical dysplasia type II 2023-05-05 criteria provided, single submitter 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.