ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5106C>A (p.Ile1702=)

dbSNP: rs45483700
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125699 SCV000169163 benign not specified 2013-09-25 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 RCV000163466 SCV000214017 likely benign Hereditary cancer-predisposing syndrome 2014-10-07 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000205066 SCV000262489 benign Tuberous sclerosis 2 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000125699 SCV000305238 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000125699 SCV000339341 benign not specified 2016-02-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000043334 SCV000395674 likely benign Tuberous sclerosis syndrome 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000125699 SCV001365847 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ile1702Ile in exon 40 of TSC2: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (11/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs45483700).
CeGaT Center for Human Genetics Tuebingen RCV001311420 SCV001501581 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7, BS1
Genome-Nilou Lab RCV000205066 SCV002039908 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163466 SCV002534015 benign Hereditary cancer-predisposing syndrome 2020-10-30 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000125699 SCV002774081 benign not specified 2021-09-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125699 SCV004020732 benign not specified 2023-06-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000205066 SCV004360935 benign Tuberous sclerosis 2 2022-10-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000043334 SCV004823485 benign Tuberous sclerosis syndrome 2024-02-05 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043334 SCV000067140 not provided Tuberous sclerosis syndrome no assertion provided curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001311420 SCV002034135 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001311420 SCV002034720 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001311420 SCV002036513 likely benign not provided no assertion criteria provided clinical testing

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