ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1946+1G>T

dbSNP: rs397514994
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 RCV000658312 SCV000780084 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing A pathogenic variant has been identified in the TSC2 gene. The c.1946+1 G>T splice site variant in the TSC2 gene destroys the canonical splice donor site in intron 18. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.1946+1 G>T variant is not observed in large population cohorts (Lek et al., 2016). Additionally, a different nucleotide change at the same canonical donor site has been identified in a patient with a clinical diagnosis of TSC in the published literature (TSC2 LOVD; Sancak et al., 2005). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of TSC in this individual.

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.