ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4168G>A (p.Glu1390Lys)

dbSNP: rs397515033
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 RCV000234433 SCV000285390 benign Tuberous sclerosis 2 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327110 SCV002630429 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-13 criteria provided, single submitter clinical testing The p.E1390K variant (also known as c.4168G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4168. The glutamic acid at codon 1390 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.