ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) (rs1800725)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129200 SCV000183944 benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118696 SCV000225243 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
Invitae RCV000203922 SCV000262405 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000118696 SCV000269917 benign not specified 2015-12-10 criteria provided, single submitter clinical testing p.Arg367Gln in exon 11 of TSC2: This variant is not expected to have clinical si gnificance because it has been identified in 1.75% (1148/65946) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs1800725).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203922 SCV000296947 benign Tuberous sclerosis 2 2015-08-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118696 SCV000305137 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000054867 SCV000395570 benign Tuberous sclerosis syndrome 2018-03-06 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000118696 SCV000605467 benign not specified 2018-09-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000118696 SCV000615879 benign not specified 2017-08-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000034642 SCV000697457 benign not provided 2016-08-23 criteria provided, single submitter clinical testing Variant summary: The TSC2 c.1100G>A (p.Arg367Gln) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant. This variant was found in 1643/120374 control chromosomes (17 homozygotes) at a frequency of 0.0136491, which is approximately 199 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 and publications have classified this variant as benign, indicating rational as having a relatively high allele frequency in controls as well as being detected in unaffected family members of TSC patients. Taken together, this variant is classified as benign.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034642 SCV000043525 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Tuberous sclerosis database (TSC2) RCV000054867 SCV000066718 not provided Tuberous sclerosis syndrome no assertion provided curation
ITMI RCV000118696 SCV000086424 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory,University of Chicago RCV000118696 SCV000153111 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.

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