ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4849+5G>C

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
Ambry Genetics RCV004680311 SCV005181136 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-10 criteria provided, single submitter clinical testing The c.4849+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 36 in the TSC2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.
All of Us Research Program, National Institutes of Health RCV004805135 SCV005428355 uncertain significance Tuberous sclerosis syndrome 2024-05-30 criteria provided, single submitter clinical testing This variant causes a G to C nucleotide substitution at the +5 position of intron 37 of the TSC2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.