ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2592G>C (p.Gln864His)

gnomAD frequency: 0.00001  dbSNP: rs763099064
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 RCV000798458 SCV000938075 benign Tuberous sclerosis 2 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001759515 SCV001997513 uncertain significance not provided 2019-12-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000798458 SCV002040711 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458444 SCV002739386 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-26 criteria provided, single submitter clinical testing The p.Q864H variant (also known as c.2592G>C), located in coding exon 22 of the TSC2 gene, results from a G to C substitution at nucleotide position 2592. The glutamine at codon 864 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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.