ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) (rs45517238)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163390 SCV000213930 benign Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification;Co-occurence with mutation in same gene (phase unknown);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176271 SCV000227901 likely benign not specified 2015-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000176271 SCV000243566 benign not specified 2016-07-05 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 RCV000989426 SCV000261305 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034649 SCV000280642 likely benign not provided 2015-10-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000176271 SCV000540606 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.1% (62/65736) European chromsomes; ClinVar: 4 labs classify as LB.
Genetic Services Laboratory, University of Chicago RCV000176271 SCV000597595 likely benign not specified 2016-08-23 criteria provided, single submitter clinical testing
Mendelics RCV000989426 SCV001139749 likely benign Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000054857 SCV001277497 likely benign Tuberous sclerosis syndrome 2019-03-14 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034649 SCV000043532 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Tuberous sclerosis database (TSC2) RCV000054857 SCV000067262 not provided Tuberous sclerosis syndrome no assertion provided curation
CSER _CC_NCGL, University of Washington RCV000054857 SCV000190663 likely benign Tuberous sclerosis syndrome 2014-06-01 no assertion criteria provided research

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