ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2103337)_(2110820_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381342 SCV001579680 pathogenic Tuberous sclerosis 2 2016-04-07 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 4-11 of the TSC2 gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This gross deletion encompasses a portion of the coiled-coil domain in TSC2 (amino acids 346–371) that mediates the interaction with TSC1 (PMID: 11741833, 9580671). An in-frame deletion of a single amino acid (p.Ile365del) in this region disrupts TSC1 binding (PMID: 11741833) and has been reported in multiple TSC patients (PMID: 10205261, 11112665), further emphasizing the importance of this domain. Deletions of exons 4-11 of TSC2 have not been reported in the literature. For these reasons, this variant has been classified as Pathogenic.

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.