ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2437G>A (p.Val813Met)

gnomAD frequency: 0.00002  dbSNP: rs375030314
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
Invitae RCV000535705 SCV000644345 likely benign Tuberous sclerosis 2 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015534 SCV001176379 likely benign Hereditary cancer-predisposing syndrome 2023-11-13 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 RCV000535705 SCV002039653 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153712 SCV003843646 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999270 SCV004820505 uncertain significance Tuberous sclerosis syndrome 2023-04-03 criteria provided, single submitter clinical testing This missense variant replaces valine with methionine at codon 813 of the TSC2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC2-related disorders in the literature. This variant has been identified in 3/250560 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.