Submissions for variant NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)

gnomAD frequency: 0.00488  dbSNP: rs9858585

Total submissions: 19

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041617	SCV000065313	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Ala1121Ala in Exon 18 of SCN5A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence and has been identified in 1.3% (45/3532) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs9858585).
Invitae	RCV000713138	SCV000291800	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251521	SCV000318350	benign	Cardiovascular phenotype	2016-08-09	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000350971	SCV000444006	uncertain significance	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000403916	SCV000444007	uncertain significance	Dilated Cardiomyopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000278194	SCV000444008	uncertain significance	Long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000230365	SCV000444009	uncertain significance	Brugada syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000404710	SCV000444010	uncertain significance	Sick sinus syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000302724	SCV000444011	uncertain significance	Paroxysmal familial ventricular fibrillation	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357766	SCV000444012	uncertain significance	Progressive familial heart block	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000713138	SCV000843715	benign	not provided	2018-05-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001841604	SCV000911579	benign	Cardiac arrhythmia	2018-03-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041617	SCV001363138	benign	not specified	2019-07-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000713138	SCV001882605	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000713138	SCV003800409	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149668	SCV003838881	benign	Cardiomyopathy	2021-09-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541214	SCV004786764	benign	SCN5A-related disorder	2019-08-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000041617	SCV001925969	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041617	SCV001968187	benign	not specified		no assertion criteria provided	clinical testing