ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.-9C>A (rs66671189)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127910 SCV000171496 benign not specified 2013-03-27 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127910 SCV000224289 benign not specified 2014-07-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406321 SCV000411504 benign Brugada syndrome 5 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000305910 SCV000411505 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353678 SCV000411506 likely benign Generalized epilepsy with febrile seizures plus, type 1 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.
Genetic Services Laboratory, University of Chicago RCV000127910 SCV000596952 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587500 SCV000700049 benign not provided 2016-04-06 criteria provided, single submitter clinical testing Variant summary: This c.-9C>A variant affects a non-conserved nucleotide, located in the 5' UTR, a location that could affect transcription, however, no functional studies have been performed to assess this. The variant of interest was observed in a control population (1000 Gs) with an allele frequency of 38/5008, predominantly in African cohort with an allele frequency of 0.026 (34/1322 chromosomes). This frequency exceeds the predicted maximum expected allele frequency for a pathogenic SCN1B allele (0.00001), suggesting this variant is benign. In addition, Multiple clinical laboratories have classified this variant as benign. Taken together, this variant has been classified as Benign.

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