ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) (rs45483700)

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Total submissions: 8
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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
Invitae RCV000205066 SCV000262489 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000125699 SCV000305238 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125699 SCV000339341 benign not specified 2016-02-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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, Partners HealthCare 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).
Tuberous sclerosis database (TSC2) RCV000043334 SCV000067140 not provided Tuberous sclerosis syndrome no assertion provided curation

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