ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1820C>A (p.Ala607Glu) (rs397515296)

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 RCV000704074 SCV000833008 uncertain significance Tuberous sclerosis 2 2018-06-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 607 of the TSC2 protein (p.Ala607Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 64879). Experimental studies have shown that this missense change disrupts the ability of the TSC1–TSC2 complex to inhibit mTOR activity (PMID: 18854862, 21309039). 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) RCV000055079 SCV000083297 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.