ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.209C>A (p.Thr70Asn)

dbSNP: rs1013995962
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999527 SCV001156188 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV001235307 SCV001407986 benign Tuberous sclerosis 2 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001235307 SCV002040532 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416286 SCV002730353 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-22 criteria provided, single submitter clinical testing The p.T70N variant (also known as c.209C>A), located in coding exon 2 of the TSC2 gene, results from a C to A substitution at nucleotide position 209. The threonine at codon 70 is replaced by asparagine, an amino acid with similar properties. This amino acid position is well 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.
Fulgent Genetics, Fulgent Genetics RCV002497316 SCV002778982 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-19 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.