Submissions for variant NM_000335.5(SCN5A):c.1479G>A (p.Arg493=)

gnomAD frequency: 0.00043  dbSNP: rs138870926

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000154844	SCV000171557	benign	not specified	2013-03-25	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154844	SCV000204526	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Arg493Arg in exon 11 of SCN5A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (8/3294) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs138870926).
Invitae	RCV000533077	SCV000637083	benign	not provided	2024-01-06	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000533077	SCV001145500	benign	not provided	2019-03-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842445	SCV001353208	benign	Cardiac arrhythmia	2019-03-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000533077	SCV001471495	likely benign	not provided	2020-06-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154844	SCV001478769	likely benign	not specified	2021-01-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390293	SCV002699557	likely benign	Cardiovascular phenotype	2019-07-24	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences	RCV003935207	SCV004755839	likely benign	SCN5A-related condition	2019-06-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).