ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5377C>T (p.Arg1793Trp)

gnomAD frequency: 0.00001  dbSNP: rs1473538868
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001066607 SCV001231622 benign Tuberous sclerosis 2 2023-09-08 criteria provided, single submitter clinical testing
GeneDx RCV001788415 SCV002031107 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV001066607 SCV002040901 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348463 SCV002646468 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-15 criteria provided, single submitter clinical testing The p.R1793W variant (also known as c.5377C>T), located in coding exon 41 of the TSC2 gene, results from a C to T substitution at nucleotide position 5377. The arginine at codon 1793 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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.