ClinVar

Description

For these reasons, this variant has been classified as Pathogenic. Smaller in-frame deletions (e11 deletion and e11-e12 deletion, also knows as e10 deletion and e10-e11 deletion in the literature) that are fully encompassed by this deletion have been reported in individuals affected with tuberous sclerosis complex and have been determined to be pathogenic (PMID: 17287951, 11112665, 21520333). This suggests that deletion of this region of the TSC2 protein is causative of disease. Similar deletions of exons 6-42 have been observed in individuals affected with tuberous sclerosis complex (PMID: 27406250, Invitae). This variant is a gross deletion of the genomic region encompassing exons 6-42 of the TSC2 gene. The 5' boundary is likely confined to intron 4. 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.