ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) (rs45517419)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122242 SCV000169166 benign not specified 2013-03-03 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 RCV000130722 SCV000185609 benign Hereditary cancer-predisposing syndrome 2015-01-09 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
CSER _CC_NCGL, University of Washington RCV000054855 SCV000212204 benign Tuberous sclerosis syndrome 2015-03-11 criteria provided, single submitter research
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202756 SCV000257720 benign Tuberous sclerosis 2 2015-03-06 criteria provided, single submitter clinical testing
Invitae RCV000034663 SCV000285462 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000122242 SCV000337047 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000054855 SCV000395685 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034663 SCV000609598 benign not provided 2017-05-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000202756 SCV000677557 benign Tuberous sclerosis 2 2017-05-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000034663 SCV000697479 benign not provided 2016-08-23 criteria provided, single submitter clinical testing Variant summary: The TSC2 c.5359G>A (p.Gly1787Ser) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 303/119148 control chromosomes at a frequency of 0.0025431, which is approximately 37 times the estimated maximal expected allele frequency of a pathogenic TSC2 variant (0.0000688), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034663 SCV000043546 probably not pathogenic not provided 2012-07-13 no assertion criteria provided research Converted during submission to Likely benign.
Tuberous sclerosis database (TSC2) RCV000054855 SCV000066425 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000122242 SCV000086466 not provided not specified 2013-09-19 no assertion provided reference population

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