ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1110G>A (p.Gln370=) (rs1800742)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163259 SCV000213787 benign Hereditary cancer-predisposing syndrome 2014-11-21 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 RCV000204769 SCV000677532 benign Tuberous sclerosis 2 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000118697 SCV000169102 benign not specified 2012-03-20 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 RCV000118697 SCV000153112 benign not specified 2013-11-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000042396 SCV000395571 likely benign Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586320 SCV000697458 benign not provided 2016-08-23 criteria provided, single submitter clinical testing Variant summary: The c.1110G>A (p.Gln370=) in TSC2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.01 predominantly in individuals of European descent (0.016; 1083/65734) including 12 homozygous spread through 4 out of 6 populations. The variant of interest has been reported as polymorphism via publications and cited as Benign by multiple reputable databases/clinical laboratories. Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.
Invitae RCV000204769 SCV000262195 benign Tuberous sclerosis 2 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118697 SCV000205283 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gln370Gln in exon 11 of TSC2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.5% (125/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs1800742).
PreventionGenetics RCV000118697 SCV000305138 benign not specified criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042396 SCV000066186 not provided Tuberous sclerosis syndrome no assertion provided curation

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