ClinVar Miner

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

gnomAD frequency: 0.00343  dbSNP: rs118203657
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Total submissions: 30
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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 This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) 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 2024-02-01 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000005410 SCV000296907 benign Tuberous sclerosis 1 2015-09-17 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000118692 SCV000303858 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 Laboratory Services, Illumina RCV000278906 SCV000478214 benign Isolated 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, Mass General Brigham 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 Isolated 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034607 SCV001472363 benign not provided 2023-09-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000005410 SCV002040060 benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000129684 SCV002528856 benign Hereditary cancer-predisposing syndrome 2020-10-21 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000034607 SCV002774053 benign not provided 2022-06-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000034607 SCV002821976 benign not provided 2023-11-01 criteria provided, single submitter clinical testing TSC1: BS1, BS2
Myriad Genetics, Inc. RCV000005410 SCV004018700 benign Tuberous sclerosis 1 2023-07-06 criteria provided, single submitter clinical testing This variant is considered benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic.
Color Diagnostics, LLC DBA Color Health RCV000005410 SCV004360817 benign Tuberous sclerosis 1 2022-09-20 criteria provided, single submitter clinical testing
OMIM RCV000005409 SCV000025591 uncertain significance Focal cortical dysplasia of Taylor type 2B 2009-06-01 flagged submission 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000034607 SCV001740581 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000118692 SCV001808987 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000034607 SCV001921455 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000118692 SCV001953033 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118692 SCV001970901 benign not specified no assertion criteria provided clinical testing

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