ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) (rs45466399)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122233 SCV000243593 benign not specified 2016-06-07 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000122233 SCV000270958 likely benign not specified 2016-02-15 criteria provided, single submitter clinical testing p.Gly1399Arg in exon 34 of TSC2: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It has been identified in 0.49% (43/8840) of African chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs45466399).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239251 SCV000296951 benign Tuberous sclerosis 2 2015-08-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122233 SCV000305214 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000043328 SCV000395646 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858815 SCV000556601 benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000122233 SCV000615907 benign not specified 2016-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573452 SCV000675518 benign Hereditary cancer-predisposing syndrome 2017-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,Subpopulation frequency in support of benign classification,Co-occurence with mutation in same gene (phase unknown)
Tuberous sclerosis database (TSC2) RCV000043328 SCV000067134 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122233 SCV000086456 not provided not specified 2013-09-19 no assertion provided reference population

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.