ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.538C>G (p.Leu180Val) (rs45485591)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000043112 SCV000395560 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000419036 SCV000528122 likely benign not specified 2018-02-19 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.
Invitae RCV000989415 SCV000644643 benign Tuberous sclerosis 2 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729019 SCV000856652 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
Mendelics RCV000989415 SCV001139737 uncertain significance Tuberous sclerosis 2 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000729019 SCV001156191 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024017 SCV001185969 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-02 criteria provided, single submitter clinical testing Insufficient evidence
Tuberous sclerosis database (TSC2) RCV000043112 SCV000066911 not provided Tuberous sclerosis syndrome no assertion provided curation
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000781951 SCV000920395 uncertain significance Seizures 2016-12-19 no assertion criteria provided clinical testing

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