Submissions for variant NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=)

gnomAD frequency: 0.00005  dbSNP: rs377173580

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041620	SCV000065316	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Arg1362Arg in exon 23 of SCN5A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2/7020 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Arg1362Arg in exon 23 of SCN5A (allele fre quency= 2/7020) **
GeneDx	RCV000041620	SCV000514550	benign	not specified	2015-05-22	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.
Color Diagnostics, LLC DBA Color Health	RCV001841606	SCV001355086	likely benign	Cardiac arrhythmia	2019-01-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001440321	SCV001643227	likely benign	Brugada syndrome	2020-10-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002321534	SCV002632652	likely benign	Cardiovascular phenotype	2018-02-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000874160	SCV002035053	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000874160	SCV002038017	likely benign	not provided		no assertion criteria provided	clinical testing