ClinVar Miner

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

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Total submissions: 10
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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,; dbSNP rs45466399).
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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 RCV000239251 SCV000556601 benign Tuberous sclerosis 2 2020-11-25 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 Co-occurence with mutation in same gene (phase unknown);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
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

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