Submissions for variant NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)

gnomAD frequency: 0.00010  dbSNP: rs368980118

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154833	SCV000204515	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Asn1734Asn in exon 28 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). Asn1734Asn in exon 28 of SCN5A (allele fre quency = 2/7020) **
Invitae	RCV000206836	SCV000260244	likely benign	not provided	2024-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000154833	SCV000514556	benign	not specified	2015-07-30	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.
Ambry Genetics	RCV000620581	SCV000737308	likely benign	Cardiovascular phenotype	2016-08-16	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154833	SCV000918188	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000206836	SCV001153857	uncertain significance	not provided	2017-07-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842480	SCV001344245	likely benign	Cardiac arrhythmia	2018-10-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965156	SCV004785806	likely benign	SCN5A-related condition	2022-03-16	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).
Clinical Genetics, Academic Medical Center	RCV000154833	SCV001920238	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000206836	SCV001926249	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000206836	SCV001957619	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000206836	SCV001971149	likely benign	not provided		no assertion criteria provided	clinical testing