ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) (rs118203576)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224245 SCV000884745 benign not provided 2017-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163265 SCV000213793 benign Hereditary cancer-predisposing syndrome 2014-11-25 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
Athena Diagnostics Inc RCV000005405 SCV000677527 benign Tuberous sclerosis 1 2017-05-05 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000005405 SCV000782388 benign Tuberous sclerosis 1 2016-11-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224245 SCV000281085 benign not provided 2016-01-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000005405 SCV000257670 benign Tuberous sclerosis 1 2015-02-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118691 SCV000226221 benign not specified 2014-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000118691 SCV000169087 benign not specified 2012-04-26 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.
Genetic Services Laboratory, University of Chicago RCV000118691 SCV000153106 benign not specified 2013-08-27 criteria provided, single submitter clinical testing
ITMI RCV000118691 SCV000086407 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000042078 SCV000478225 benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303027 SCV000478226 benign Focal cortical dysplasia type II 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000224245 SCV000696601 benign not provided 2016-05-26 criteria provided, single submitter clinical testing Variant summary: The c.29C>T (p.Pro10Leu) is a missense variant that involves a mildly conserved nucleotide and 2/4 in silico tools predict benign outcome. The variant is present in the control population dataset of ExAC at a frequency of 0.01878 (2278/121330), predominantly in individuals of Latino ancestry (0.1832; 2118/115620 including 217 homozygotes. These frequencies greatly exceed the maximal expected allele frequency for a non-common pathogenic TSC11 variant (0.00002). The variant was found in TSC pts with other known causal variants. Diagnostics centers and several published reports classified this variant as Benign/Polymorphism. Taken all together, the variant was classified as Benign.
Invitae RCV000005405 SCV000562464 benign Tuberous sclerosis 1 2017-08-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118691 SCV000540595 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are pr eliminary notes: Frequency
OMIM RCV000005405 SCV000025587 uncertain significance Tuberous sclerosis 1 1998-07-01 no assertion criteria provided literature only
PreventionGenetics RCV000118691 SCV000303852 benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042078 SCV000065862 not provided Tuberous sclerosis syndrome no assertion provided curation
Vantari Genetics RCV000163265 SCV000267094 benign Hereditary cancer-predisposing syndrome 2015-10-07 criteria provided, single submitter clinical testing

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