ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1794C>T (p.Ser598=)

gnomAD frequency: 0.00001  dbSNP: rs766438395
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087929 SCV000261567 benign Tuberous sclerosis 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000828746 SCV000970446 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002398 SCV001160319 likely benign not specified 2018-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013195 SCV001173747 likely benign Hereditary cancer-predisposing syndrome 2015-05-08 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 RCV001087929 SCV002040413 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001013195 SCV002530932 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-18 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003897453 SCV004712424 likely benign TSC1-related disorder 2023-08-25 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).
All of Us Research Program, National Institutes of Health RCV003997652 SCV004815804 uncertain significance Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing This variant is located in the TSC1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has been identified in 1/31396 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.