ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.2437-5C>A (rs72549411)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246661 SCV000319574 likely benign Cardiovascular phenotype 2017-06-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Does not segregate with disease in family study (genes with incomplete penetrance),In silico models in agreement (benign)
Color RCV000776286 SCV000911573 likely benign Arrhythmia 2018-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000127973 SCV000171561 benign not specified 2013-12-06 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.
Illumina Clinical Services Laboratory,Illumina RCV000268911 SCV000444062 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328610 SCV000444063 uncertain significance Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383883 SCV000444064 uncertain significance Sick sinus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294222 SCV000444065 uncertain significance Progressive familial heart block 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349191 SCV000444066 uncertain significance Paroxysmal familial ventricular fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000226685 SCV000444067 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295208 SCV000444068 uncertain significance Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590814 SCV000700025 benign not provided 2016-01-25 criteria provided, single submitter clinical testing Variant summary: This c.2437-5C>A variant affects an intronic non-conserved nucleotide located at a position not widely know to affects splicing. Mutation taster predicts disease causing outcome while 4/5 in silico tools via Alamut predict no effect on normal splicing. It was observed predominantly in the Non-Finnish European subcohort of the ExAC project at an allele frequency of 0.056% (34/59828 chromosomes) which exceeds the maximal expected allele frequency of a disease causing SCN5A allele (0.01%) indicating the variant to be benign. To our knowledge, the variant has been not reported in affected individuals till date. A clinical diagnostic center classifies variant as Benign via ClinVar (without evidence to independently evaluate), Considering all evidence, the variant was classified as Benign.
Invitae RCV000226685 SCV000291793 likely benign Brugada syndrome 2018-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000127973 SCV000272410 uncertain significance not specified 2015-06-24 criteria provided, single submitter clinical testing The c.2437-5C>A variant in SCN5A has not been previously reported in individuals with cardiomyopathy, but has been identified in 34/59828 European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs72549411). This variant is located in the 3' splice region. Computational tool s do not suggest an impact to splicing. However, this information is not predict ive enough to rule out pathogenicity. In summary, the clinical significance of t he c.2437-5C>A variant is uncertain

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