ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) (rs72558029)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171023 SCV000050710 benign not provided 2020-02-21 criteria provided, single submitter research
Blueprint Genetics RCV000193746 SCV000207216 likely benign not specified 2015-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000193746 SCV000223587 benign not specified 2015-05-06 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.
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000172897 SCV000223888 likely benign Long QT syndrome 2015-03-27 criteria provided, single submitter research The SCN1B Val138Ile variant has been previously reported. It is observed in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/) with an allele frequency of 0.012 (1418/121366 alleles); and the frequency in the South Asian subpopulation is 0.08. In-silico software tools predict this variant to be tolerable (SIFT "tolerated"; PholyPhen2 "benign", MutationTaster "polymorphism"). We identified this variant in a female with an undetermined heart disease, normal echocardiogram, paroxysmal atrial fibrillation and non-sustained ventricular tachycardia. There is no clear family history of disease. Based on the high frequency (>1%) observed in the general population, we have classified this variant as "likely benign".
Genetic Services Laboratory,University of Chicago RCV000193746 SCV000248800 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Invitae RCV001084740 SCV000252899 benign Brugada syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248951 SCV000318186 benign Cardiovascular phenotype 2019-09-16 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV001084740 SCV000411522 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 RCV000401928 SCV000411524 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV000715751 SCV000846582 benign Seizures 2015-06-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000171023 SCV001145385 benign not provided 2019-03-08 criteria provided, single submitter clinical testing

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