ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) (rs118203657)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118692 SCV000153107 likely benign not specified 2014-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000118692 SCV000169091 benign not specified 2014-01-02 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 RCV000129684 SCV000184484 benign Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Co-occurence with mutation in same gene (phase unknown);Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118692 SCV000226570 benign not specified 2014-10-09 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034607 SCV000280942 benign not provided 2016-05-03 criteria provided, single submitter clinical testing
Invitae RCV000005410 SCV000284695 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000005410 SCV000296907 benign Tuberous sclerosis 1 2015-09-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118692 SCV000303858 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000005410 SCV000478213 benign Tuberous sclerosis 1 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000278906 SCV000478214 benign Focal cortical dysplasia type II 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000118692 SCV000540593 benign 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: 1.5% (96/6614) Finnish chromosomes
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000278906 SCV000598610 uncertain significance Focal cortical dysplasia type II 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development
Athena Diagnostics Inc RCV000034607 SCV000844551 benign not provided 2017-12-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000005410 SCV000883138 benign Tuberous sclerosis 1 2018-11-21 criteria provided, single submitter clinical testing
OMIM RCV000005409 SCV000025591 uncertain significance Focal cortical dysplasia of Taylor type 2B 2009-06-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034607 SCV000043509 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Tuberous sclerosis database (TSC1) RCV000054851 SCV000065954 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000118692 SCV000086410 not provided not specified 2013-09-19 no assertion provided reference population

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