ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) (rs9209)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163420 SCV000213963 benign Hereditary cancer-predisposing syndrome 2015-04-06 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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034662 SCV000043545 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000034662 SCV000280897 likely benign not provided 2015-08-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118714 SCV000230569 benign not specified 2015-04-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118714 SCV000153129 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
ITMI RCV000118714 SCV000086465 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000054870 SCV000395683 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000034662 SCV000697478 benign not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The TSC2 c.5321G>C (p.Ser1774Thr) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 359/119808 control chromosomes (6 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.033497 (342/10210). This frequency is about 487 times the estimated maximal expected allele frequency of a pathogenic TSC2 variant (0.0000688), strong evidence that this is a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000205152 SCV000261874 benign Tuberous sclerosis 2 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118714 SCV000305252 benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000054870 SCV000066988 not provided Tuberous sclerosis syndrome no assertion provided curation

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