ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5155T>C (p.Leu1719=) (rs199698414)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000315288 SCV000417456 likely benign Benign familial neonatal-infantile seizures 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000370002 SCV000417457 uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000419672 SCV000514521 likely benign not specified 2018-02-21 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 RCV000419672 SCV000596962 likely benign not specified 2016-10-11 criteria provided, single submitter clinical testing
Invitae RCV001083298 SCV000639636 likely benign Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720874 SCV000851758 likely benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000540898 SCV001152488 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing

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