ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)

dbSNP: rs45517140
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
PreventionGenetics, part of Exact Sciences RCV003415784 SCV004106210 pathogenic TSC2-related condition 2023-09-27 criteria provided, single submitter clinical testing The TSC2 c.911G>A variant is predicted to result in premature protein termination (p.Trp304*). This variant has been reported in individuals with tuberous sclerosis complex (Table 4, Dabora et al. 2001. PubMed ID: 11112665; Table S2, Martin et al. 2017. PubMed ID: 28643795; Table 2, Rosset et al. 2017. PubMed ID: 28968464). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. It is interpreted as pathogenic in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/49405/). Nonsense variants in TSC2 are expected to be pathogenic. This variant is interpreted as pathogenic.
Tuberous sclerosis database (TSC2) RCV000042665 SCV000066460 not provided Tuberous sclerosis syndrome no assertion provided curation
Genetic Services Laboratory, University of Chicago RCV003150939 SCV003839178 pathogenic not provided 2022-08-31 no assertion criteria provided clinical testing DNA sequence analysis of the TSC2 gene demonstrated a sequence change, c.911G>A, which results in the creation of a premature stop codon at amino acid position 304, p.Trp304*. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated TSC2 protein with potentially abnormal function. This sequence change has not been described in the population databases such as ExAC and gnomAD. This pathogenic sequence change has previously been described in individuals with TSC2-related disorders (PMID: 28643795, 28968464, 25782670). Collectively, these evidences indicate this sequence change is 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.