ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3132-1G>T (rs45443096)

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
Invitae RCV000461214 SCV000544412 pathogenic Tuberous sclerosis 2 2017-04-07 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 27 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic. This particular variant has been observed as de novo in an individual suspected of tuberous sclerosis complex (TSC) in the Invitae database. A different variant affecting this nucleotide (c.3132-1G>C) has been determined to be pathogenic (PMID: 15798777, 21520333). This suggests that this nucleotide is important for normal RNA splicing, and that other variants at this position may also be pathogenic. For these reasons, this variant has been classified as 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.