ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+112G>A (rs72558026)

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Total submissions: 5
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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 RCV000171024 SCV000050709 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000212985 SCV000223588 benign not specified 2017-07-18 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 RCV000171024 SCV000557250 benign not provided 2019-02-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000212985 SCV000918186 benign not specified 2018-07-09 criteria provided, single submitter clinical testing Variant summary: SCN1B c.560G>A (p.Arg187His) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0014 in 271814 control chromosomes in the gnomAD database, including 5 homozygotes. The observed variant frequency is approximately 137-fold of the estimated maximal expected allele frequency for a pathogenic variant in SCN1B causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. The variant, c.560G>A, has been reported in the literature in individuals affected with idiopathic cardiac arrest and one patient with cardiopulmonary arrest and Brugada-pattern electrocardiogram (Mellor_2017, Nakajima_2012). These report(s) do not provide unequivocal conclusions about association of the variant with Arrhythmia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Blueprint Genetics RCV000157473 SCV000207218 uncertain significance Ventricular fibrillation 2014-08-26 no assertion criteria provided clinical testing

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