ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu)

gnomAD frequency: 0.00002  dbSNP: rs138527121
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571394 SCV000675697 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-23 criteria provided, single submitter clinical testing The p.P874L variant (also known as c.2621C>T), located in coding exon 22 of the TSC2 gene, results from a C to T substitution at nucleotide position 2621. The proline at codon 874 is replaced by leucine, an amino acid with similar 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.
Invitae RCV001047205 SCV001211145 likely benign Tuberous sclerosis 2 2023-04-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001047205 SCV002040712 uncertain significance Tuberous sclerosis 2 2021-11-07 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.