ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1096_1116del (p.Glu366_Leu372del)

dbSNP: rs1085307591
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
GeneDx RCV000489978 SCV000576788 likely pathogenic not provided 2017-04-19 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the TSC2 gene. The c.1096_1116del21 variant has been reported previously in association with tuberous sclerosis complex (TSC) (TSC2 LOVD). The c.1096_1116del21 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1096_1116del21variant results in an in-frame deletion of seven amino acids, denoted p.Glu366_Leu372del. In-frame deletions and duplications have been reported in the Human Gene Mutation Database in association with TSC (Stenson et al., 2014). However, the c.1096_1116del21 variant is not predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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.