ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) (rs199473316)

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Total submissions: 17
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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 RCV000148840 SCV000050783 likely benign Long QT syndrome 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154835 SCV000204517 benign not specified 2019-09-10 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
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 RCV001083087 SCV000291818 likely benign Brugada syndrome 2019-12-31 criteria provided, single submitter clinical testing
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000474591 SCV000541079 pathogenic Arrhythmogenic right ventricular dysplasia/cardiomyopathy criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000058775 SCV000575344 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621224 SCV000737646 benign Cardiovascular phenotype 2018-12-14 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
Color RCV000771146 SCV000902959 benign Arrhythmia 2018-04-07 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000148840 SCV000987594 uncertain significance Long QT syndrome criteria provided, single submitter clinical testing
Mendelics RCV000987199 SCV001136448 benign Brugada syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987199 SCV001304804 uncertain significance Brugada syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001144218 SCV001304805 benign Sick sinus syndrome 1, autosomal recessive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001144219 SCV001304806 uncertain significance Paroxysmal familial ventricular fibrillation 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001144220 SCV001304807 uncertain significance Progressive familial heart block, type 1A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001144221 SCV001304808 uncertain significance Dilated cardiomyopathy 1E 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
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).
CSER _CC_NCGL, University of Washington RCV000148840 SCV000190581 likely benign Long QT syndrome 2014-06-01 no assertion criteria provided research

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