ClinVar Miner

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

gnomAD frequency: 0.00823  dbSNP: rs1800742
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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118697 SCV000153112 benign not specified 2013-11-13 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.
Laboratory for Molecular Medicine, Mass General Brigham 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).
Ambry Genetics RCV000163259 SCV000213787 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000204769 SCV000262195 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000118697 SCV000305138 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000042396 SCV000395571 benign Tuberous sclerosis syndrome 2018-01-12 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.
Athena Diagnostics RCV000204769 SCV000677532 benign Tuberous sclerosis 2 2017-05-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586320 SCV001159144 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000204769 SCV002041300 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000118697 SCV002774063 benign not specified 2021-11-16 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000204769 SCV004016104 benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000204769 SCV004360855 benign Tuberous sclerosis 2 2019-03-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000042396 SCV004817077 benign Tuberous sclerosis syndrome 2024-02-05 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042396 SCV000066186 not provided Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000118697 SCV001808843 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000118697 SCV001919396 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118697 SCV001972441 benign not specified no assertion criteria provided clinical testing

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