ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4226G>A (p.Arg1409Gln)

gnomAD frequency: 0.00011  dbSNP: rs768684515
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
GeneDx RCV001721232 SCV000243595 likely benign not provided 2020-09-30 criteria provided, single submitter clinical testing
Invitae RCV000915945 SCV001061172 benign Tuberous sclerosis 2 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022088 SCV001183783 likely benign Hereditary cancer-predisposing syndrome 2022-01-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000915945 SCV002039841 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721232 SCV004184510 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing TSC2: BP4

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.