ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.74G>A (p.Arg25Lys)

dbSNP: rs759867905
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 RCV000644165 SCV000765855 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388092 SCV002669002 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-29 criteria provided, single submitter clinical testing The p.R25K variant (also known as c.74G>A), located in coding exon 1 of the TSC2 gene, results from a G to A substitution at nucleotide position 74. The arginine at codon 25 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly 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.

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.