ClinVar Miner

Submissions for variant NM_018400.3(SCN3B):c.328G>A (p.Val110Ile) (rs147205617)

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Total submissions: 8
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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 RCV000171068 SCV000050713 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000185522 SCV000223632 uncertain significance not specified 2017-09-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCN3B gene. The V110I variant has been reported previously in three unrelated Japanese individuals with Brugada syndrome, and was not reported in 480 Japanese control alleles (Ishikawa et al., 2013). This variant has also been reported in a patient with SUD who also harbored additional cardiogenetic variants (Methner et al., 2016). However, this variant is observed in 20/8654 (0.23%) alleles from individuals of East Asian ancestry in large population cohorts, indicating it may be a rare benign variant in this population and is observed in one homozygous individual undergoing testing at GeneDx (Lek et al., 2016). The V110I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Nevertheless, this substitution occurs at a position that is conserved across species, and in silico analysis suggests that this variant is probably damaging to the protein structure/function.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000185522 SCV000540270 uncertain significance not specified 2016-08-12 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency high for disorder; Reported in 3 probands with no seg data; ClinVar: 2 VUS
Invitae RCV000171068 SCV000562320 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000185522 SCV000605062 uncertain significance not specified 2017-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621217 SCV000736435 uncertain significance Cardiovascular phenotype 2017-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852659 SCV000995365 likely benign Cardiomyopathy 2018-02-11 criteria provided, single submitter clinical testing
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences RCV000234992 SCV000263111 pathogenic Death in infancy 2015-03-27 no assertion criteria provided clinical testing

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