ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) (rs45473098)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724630 SCV000229303 uncertain significance not provided 2015-02-23 criteria provided, single submitter clinical testing
GeneDx RCV000177445 SCV000523847 likely benign not specified 2016-02-09 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.
Invitae RCV000465488 SCV000544304 uncertain significance Tuberous sclerosis 2 2018-03-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1159 of the TSC2 protein (p.Arg1159Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs45473098, ExAC 0.01%). 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: 49755). An experimental study has shown that this missense change slightly destabilizes the protein, but does not affect TSC2 function (PMID: 21309039). In summary, this variant is a rare missense change that does not affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000565521 SCV000675462 likely benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign)
Tuberous sclerosis database (TSC2) RCV000043020 SCV000066818 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.