ClinVar Miner

Submissions for variant NC_000016.10:g.(?_2058737)_(2093096_?)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 RCV001032849 SCV001196156 pathogenic Tuberous sclerosis 2 2019-11-21 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the TSC2 protein. Other variant(s) that disrupt this region (Deletion (Exons 31-42)) have been determined to be pathogenic (PMID: 17287951, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant is a gross deletion of the genomic region encompassing exons 10-42 of the TSC2 gene. The 5' boundary is likely confined to intron 9. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. 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.