ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2098-5C>T

dbSNP: rs369072310
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232656 SCV000285278 likely benign Tuberous sclerosis 2 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564614 SCV000675704 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-26 criteria provided, single submitter clinical testing The c.2098-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 19 in the TSC2 gene. This nucleotide position is poorly 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.
GeneDx RCV000616624 SCV000717436 likely benign not specified 2017-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000232656 SCV002039619 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000564614 SCV002531035 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-07 criteria provided, single submitter 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.