ClinVar Miner

Submissions for variant NC_000016.10:g.(?_2081589)_(2088616_?)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
Invitae RCV000708025 SCV000837135 pathogenic Tuberous sclerosis 2 2018-02-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 31-42 of the TSC2 gene. The 5' boundary is likely confined to intron 30. 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. A similar deletion of exons 31-42 (also known as exons 30-41 in the literature) has been reported in individuals affected with tuberous sclerosis complex (PMID: 17287951). Many different truncations downstream of this variant have been reported to be pathogenic, including a frameshift variant, c.5405_5408dup (p.Phe1803Leufs*42), that has been reported as a disease-causing de novo variant in an individual affected with tuberous sclerosis complex (PMID: 24789117). This suggests that deletion of this region of the TSC2 protein is causative of disease. 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.