ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) (rs45484298)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 15
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000122204 SCV000153113 likely benign not specified 2014-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163424 SCV000213969 likely benign Hereditary cancer-predisposing syndrome 2018-08-21 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Other data supporting benign classification
GeneDx RCV000122204 SCV000243540 likely benign not specified 2017-12-05 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.
Invitae RCV000227708 SCV000285236 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000227708 SCV000296948 uncertain significance Tuberous sclerosis 2 2015-10-30 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122204 SCV000305143 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122204 SCV000340586 likely benign not specified 2016-03-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000054863 SCV000395576 likely benign Tuberous sclerosis syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000227708 SCV000493815 uncertain significance Tuberous sclerosis 2 2016-01-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000122204 SCV000605464 likely benign not specified 2018-08-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034643 SCV000610912 likely benign not provided 2017-06-20 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034643 SCV000043526 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Tuberous sclerosis database (TSC2) RCV000054863 SCV000067257 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122204 SCV000086425 not provided not specified 2013-09-19 no assertion provided reference population
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. RCV000201296 SCV000222732 uncertain significance Hirschsprung disease 1 2015-04-01 no assertion criteria provided research

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.