ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) (rs199473316)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621224 SCV000737646 likely benign Cardiovascular phenotype 2016-07-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000474591 SCV000541079 pathogenic Arrhythmogenic right ventricular dysplasia/cardiomyopathy criteria provided, single submitter research
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000148840 SCV000050783 likely benign Long QT syndrome 2013-06-24 criteria provided, single submitter research
CSER_CC_NCGL; University of Washington Medical Center RCV000148840 SCV000190581 likely benign Long QT syndrome 2014-06-01 no assertion criteria provided research
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058775 SCV000090295 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:10973849;PMID:15851227;PMID:16414944;PMID:19841300;PMID:20129283;PMID:22378279).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000058775 SCV000575344 uncertain significance not provided 2017-01-31 criteria provided, single submitter clinical testing
Color RCV000771146 SCV000902959 benign Arrhythmia 2018-04-07 criteria provided, single submitter clinical testing
GeneDx RCV000154835 SCV000235528 likely benign not specified 2018-01-26 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 RCV000233103 SCV000291818 likely benign Brugada syndrome 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154835 SCV000204517 uncertain significance not specified 2015-02-19 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser1787Asn va riant in SCN5A has been reported in 2 individuals with LQTS and 1 individual wit h Brugada syndrome (Splawski 2000, Napolitano 2005, Nannenberg 2012). It has als o been previously identified by our laboratory in 1 female child with Wolff-Park inson White syndrome and clinical features of Danon disease and in 1 adult with ARVC. This variant has been identified in 0.1% (74/67708) of European chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs199473316). Additionally, it has been identified in 0.1% (4/4258) of health y controls from multiple studies (Ackerman 2004, Kapplinger 2010). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine path ogenicity. In summary, while the clinical significance of the p.Ser1787Asn varia nt is uncertain, its frequency in the general population and healthy controls su ggests that it is more likely to be benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000148840 SCV000987594 uncertain significance Long QT syndrome criteria provided, single submitter clinical testing

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