ClinVar Miner

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

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Total submissions: 12
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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 uncertain significance not provided 2013-06-24 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 RCV000171023 SCV000252899 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248951 SCV000318186 benign Cardiovascular phenotype 2015-06-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278147 SCV000411522 likely benign Cardiac conduction defect, nonspecific 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335507 SCV000411523 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401928 SCV000411524 likely benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
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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