ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3224C>T (p.Thr1075Ile) (rs397515024)

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 RCV000797820 SCV000937402 uncertain significance Tuberous sclerosis 2 2018-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1075 of the TSC2 protein (p.Thr1075Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported once in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 65039). Experimental studies have shown that this missense change is indistinguishable from wild-type TSC2 in both the semiautomated In Cell Western blot and immunoblot assays (PMID: 18854862). 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.
Tuberous sclerosis database (TSC2) RCV000055244 SCV000083463 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.