ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4392C>T (p.Ser1464=)

gnomAD frequency: 0.00004  dbSNP: rs528080018
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719990 SCV000515046 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000458625 SCV000556479 benign Tuberous sclerosis 2 2025-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022413 SCV001184145 likely benign Hereditary cancer-predisposing syndrome 2018-05-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000458625 SCV002039460 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001022413 SCV002533534 likely benign Hereditary cancer-predisposing syndrome 2021-11-10 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002502485 SCV002809607 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-03-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995995 SCV004824779 likely benign Tuberous sclerosis syndrome 2024-09-26 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.