ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1840-3C>T

dbSNP: rs397515154
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
Invitae RCV000464680 SCV000544550 likely benign Tuberous sclerosis 2 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298478 SCV003988648 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-17 criteria provided, single submitter clinical testing The c.1840-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 17 in the TSC2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing; however direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.