ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3892G>A (p.Val1298Met)

gnomAD frequency: 0.00019  dbSNP: rs147284943
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 RCV001703595 SCV000518567 likely benign not provided 2020-01-27 criteria provided, single submitter clinical testing
Invitae RCV000534965 SCV000644485 benign Tuberous sclerosis 2 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563673 SCV000675579 likely benign Hereditary cancer-predisposing syndrome 2018-06-18 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 RCV000534965 SCV002039394 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000563673 SCV002533469 likely benign Hereditary cancer-predisposing syndrome 2021-01-13 criteria provided, single submitter curation

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.