ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.133_136del (p.Leu45fs) (rs137854360)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484317 SCV000566310 pathogenic not provided 2017-08-02 criteria provided, single submitter clinical testing The c.133_136delCTGA deletion in the TSC2 gene has been reported multiple times in association withtuberous sclerosis complex (TSC) (Hung et al., 2006; TSC2 LOVD). The deletion causes a frameshift starting with codon Leucine 45, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Leu45GlufsX3. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.133_136delCTGA as a pathogenic variant.
Invitae RCV000554425 SCV000644229 pathogenic Tuberous sclerosis 2 2017-03-15 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 2 of the TSC2 mRNA (c.133_136delCTGA), causing a frameshift at codon 45. This creates a premature translational stop signal (p.Leu45Glufs*3) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic. This particular variant has been reported in individuals affected with tuberous sclerosis complex (PMID: 16981987, 21510812). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042406 SCV000066196 not provided Tuberous sclerosis syndrome no assertion provided curation

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.