ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.6007T>C (p.Phe2003Leu) (rs41311117)

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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 RCV000251940 SCV000318496 likely benign Cardiovascular phenotype 2017-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign),No disease association in small case-control study
Athena Diagnostics Inc RCV000058821 SCV000843727 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171818 SCV000050838 benign Long QT syndrome; Brugada syndrome 2013-06-24 criteria provided, single submitter research
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058821 SCV000090341 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:15851227;PMID:17210839;PMID:18071069;PMID:18456723;PMID:19841300;PMID:17605181;PMID:20129283).
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000678922 SCV000805129 uncertain significance Brugada syndrome 1 2017-12-07 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000058821 SCV000280965 likely benign not provided 2015-06-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000776090 SCV000910859 likely benign Arrhythmia 2018-03-08 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202785 SCV000257780 likely benign Brugada syndrome 1; Long QT syndrome 3 2015-05-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041636 SCV000228662 likely benign not specified 2014-10-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000041636 SCV000920195 likely benign not specified 2017-09-25 criteria provided, single submitter clinical testing Variant summary: The SCN5A c.6010T>C (p.Phe2004Leu) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 492/240470 control chromosomes at a frequency of 0.002046, which is approximately 20 times the estimated maximal expected allele frequency of a pathogenic SCN5A variant (0.0001), suggesting this variant is likely a benign polymorphism. This variant has been reported in patients without strong evidence supporting causality. One functional study showed that this variant could affect SCN5A function (Wang_2007), however, the study in a large Danish population did not identify an asscoation between this variant and cardiac conditions (Ghouse_2017). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000204558 SCV000259928 benign Brugada syndrome 2018-01-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041636 SCV000065332 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Phe2004Leu in exon 28 of SCN5A: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (21/6776) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs41311117). Phe2004Leu in exon 28 of SCN5A (rs41311117; allele frequency = 0.3%, 21/6776) **
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000041636 SCV000747931 uncertain significance not specified 2017-02-23 criteria provided, single submitter clinical testing

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