ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2880G>A (p.Leu960=)

gnomAD frequency: 0.00001  dbSNP: rs1845126730
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 RCV001038241 SCV001201704 uncertain significance Tuberous sclerosis 1 2023-04-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 960 of the TSC1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TSC1 protein. This variant has not been reported in the literature in individuals affected with TSC1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 837001).

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.