ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.856A>G (p.Met286Val)

gnomAD frequency: 0.00083  dbSNP: rs1800748
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 17
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122201 SCV000169099 benign not specified 2013-04-11 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.
Ambry Genetics RCV000163382 SCV000213922 benign Hereditary cancer-predisposing syndrome 2014-12-25 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000122201 SCV000269923 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Met286Val in exon 10 of TSC2: This variant is not expected to have clinical sign ificance because it has been identified in 4.5% (8/178) of Japanese chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov /projects/SNP; dbSNP rs1800748).
Invitae RCV001084045 SCV000285480 benign Tuberous sclerosis 2 2021-12-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122201 SCV000305260 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000043277 SCV000395569 likely benign Tuberous sclerosis syndrome 2018-03-14 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc RCV000713944 SCV000844593 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000713944 SCV001159981 benign not provided 2020-07-02 criteria provided, single submitter clinical testing
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University RCV001084045 SCV001430718 likely benign Tuberous sclerosis 2 2020-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001084045 SCV002041272 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000122201 SCV002041598 likely benign not specified 2021-11-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000122201 SCV002067832 benign not specified 2021-02-26 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000163382 SCV002534118 benign Hereditary cancer-predisposing syndrome 2020-10-23 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000043277 SCV000067079 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122201 SCV000086421 not provided not specified 2013-09-19 no assertion provided reference population
Clinical Genetics, Academic Medical Center RCV000122201 SCV001920262 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000122201 SCV001968171 benign not specified no assertion criteria provided 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.