ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2546-1G>A (rs45468292)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523003 SCV000617350 pathogenic not provided 2017-12-13 criteria provided, single submitter clinical testing The c.2546-1 G>A splice site variant in the TSC2 gene destroys the canonical splice acceptor site in intron 22. 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. It has been reported as an apparently de novo pathogenic variant in the TSC2 LOVD database and as a pathogenic variant in the TSC project database. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, c.2546-1 G>A is interpreted to be a pathogenic variant and its presence is consistent with a diagnosis of tuberous sclerosis
Tuberous sclerosis database (TSC2) RCV000042829 SCV000066625 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.