ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) (rs41261344)

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Total submissions: 21
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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 RCV000171819 SCV000050843 benign Brugada syndrome 2013-06-24 criteria provided, single submitter research
GeneDx RCV000058578 SCV000171568 benign not provided 2020-04-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23465283, 22378279, 22995991, 24784157, 20129283, 15851227, 15992732, 18976777, 23853484, 15121794, 15689442, 22682427, 25051102, 20981092, 22519808, 17605181, 11823453, 26131924, 26159999, 27153395, 15851440, 16568155, 28472724, 28493952, 29672598, 29997009, 28498465, 30419068, 30079003, 31019283, 30677491, 31043699, 31539150, 31751991, 31918855, 28878402, 18245395, 33131149)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154828 SCV000204510 benign not specified 2013-10-18 criteria provided, single submitter clinical testing Arg1193Gln in exon 20 of SCN5A: This variant is not expected to have clinical si gnificance because it has been identified in 5.1% (20/394) Chinese chromosomes b y the 1000 Genomes Project (dbSNP rs41261344).
Invitae RCV000171819 SCV000262483 benign Brugada syndrome 2020-12-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000154828 SCV000306543 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000252422 SCV000318184 benign Cardiovascular phenotype 2016-02-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Clinical Services Laboratory,Illumina RCV000009990 SCV000443977 benign Brugada syndrome 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000154828 SCV000748020 likely benign not specified 2016-12-28 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000755697 SCV000883129 benign Long QT syndrome 3 2018-11-21 criteria provided, single submitter clinical testing
Color Health, Inc RCV000776034 SCV000910629 benign Arrhythmia 2018-03-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000058578 SCV001145504 likely benign not provided 2018-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000755697 SCV001308460 benign Long QT syndrome 3 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001147624 SCV001308461 likely benign Progressive familial heart block, type 1A 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001147625 SCV001308462 benign Sick sinus syndrome 1, autosomal recessive 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001147626 SCV001308463 benign Paroxysmal familial ventricular fibrillation 1 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001147627 SCV001308464 likely benign Dilated cardiomyopathy 1E 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286135 SCV001472663 benign none provided 2020-01-20 criteria provided, single submitter clinical testing
OMIM RCV000009990 SCV000030211 pathogenic Brugada syndrome 1 2006-10-01 no assertion criteria provided literature only
OMIM RCV000009991 SCV000030212 risk factor Long qt syndrome 3, acquired, susceptibility to 2006-10-01 no assertion criteria provided literature only
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058578 SCV000090098 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:11823453;PMID:12639704;PMID:15121794;PMID:15689442;PMID:15851227;PMID:16155735;PMID:16707561;PMID:17210839;PMID:17905336;PMID:18245395;PMID:18976777;PMID:19841300;PMID:17605181;PMID:20981092;PMID:20129283).
Blueprint Genetics RCV000157488 SCV000207233 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-04-17 no assertion criteria provided clinical testing

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