ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1512C>G (p.Val504=)

gnomAD frequency: 0.00035  dbSNP: rs146359990
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130280 SCV000185125 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: 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.
Invitae RCV000232389 SCV000285246 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001711297 SCV000521704 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000232389 SCV002041349 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000130280 SCV002530962 likely benign Hereditary cancer-predisposing syndrome 2021-06-30 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003114281 SCV003800825 likely benign not specified 2023-01-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001711297 SCV004221405 uncertain significance not provided 2016-05-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001711297 SCV004703584 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TSC2: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV003935216 SCV004753912 likely benign TSC2-related condition 2019-10-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.