ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys)

dbSNP: rs773920155
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069408 SCV001234572 benign Tuberous sclerosis 2 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353149 SCV004057603 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-07 criteria provided, single submitter clinical testing The p.E399K variant (also known as c.1195G>A), located in coding exon 11 of the TSC2 gene, results from a G to A substitution at nucleotide position 1195. The glutamic acid at codon 399 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003442199 SCV004169014 uncertain significance not provided 2023-11-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115)
Baylor Genetics RCV003462611 SCV004206835 uncertain significance Isolated focal cortical dysplasia type II 2023-09-24 criteria provided, single submitter clinical testing

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.