ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) (rs45451497)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190075 SCV000243750 pathogenic not provided 2018-10-23 criteria provided, single submitter clinical testing p.Arg1138Ter (CGA>TGA): c.3412 C>T in exon 30 of the TSC2 gene (NM_000548.3) The R1138X nonsense mutation in the TSC2 gene has been reported previously in multiple unrelated individuals with a clinical diagnosis of tuberous sclerosis (Mayer et al., 1999; Dabora et al., 2001; TSC2 LOVD). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in TUBSC-EPIV2 panel(s).
Athena Diagnostics Inc RCV000201090 SCV000255892 pathogenic Tuberous sclerosis 2 2015-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491678 SCV000579608 pathogenic Hereditary cancer-predisposing syndrome 2016-10-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000201090 SCV000644437 pathogenic Tuberous sclerosis 2 2018-12-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1138 (p.Arg1138*) of the TSC2 gene. It 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 the literature in individuals affected with tuberous sclerosis complex (PMID: 10533066, 16981987). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042516 SCV000066307 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.