ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.821A>G (p.Tyr274Cys)

gnomAD frequency: 0.00001  dbSNP: rs1305592691
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
Ambry Genetics RCV000567862 SCV000664666 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-01 criteria provided, single submitter clinical testing The p.Y274C variant (also known as c.821A>G), located in coding exon 8 of the TSC2 gene, results from an A to G substitution at nucleotide position 821. The tyrosine at codon 274 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001035509 SCV001198838 benign Tuberous sclerosis 2 2023-12-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001035509 SCV002040571 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002291670 SCV002584204 uncertain significance not provided 2023-12-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115)

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.