Submissions for variant NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys)

gnomAD frequency: 0.03086  dbSNP: rs6791924

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000041594	SCV000050837	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041594	SCV000065290	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Arg34Cys in Exon 02 of SCN5A: This variant is not expected to have clinical si gnificance because it has been identified in 9.0% (296/3276) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs6791924).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000058380	SCV000280775	benign	not provided	2016-04-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000244721	SCV000318205	benign	Cardiovascular phenotype	2015-06-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Illumina Laboratory Services, Illumina	RCV000357684	SCV000444204	likely benign	Dilated cardiomyopathy 1E	2018-01-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000263131	SCV000444205	likely benign	Long QT syndrome 3	2018-01-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000318270	SCV000444206	likely benign	Progressive familial heart block, type 1A	2018-01-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000372880	SCV000444207	likely benign	Ventricular fibrillation, paroxysmal familial, type 1	2018-01-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000277696	SCV000444208	likely benign	Sick sinus syndrome 1	2018-01-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001094908	SCV000444209	likely benign	Brugada syndrome 1	2018-01-23	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000058380	SCV000557145	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001841583	SCV000902762	benign	Cardiac arrhythmia	2018-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000058380	SCV001159417	benign	not provided	2023-09-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000058380	SCV001936620	benign	not provided	2020-04-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25119684, 27884173)
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	RCV000058380	SCV000089900	not provided	not provided		no assertion provided	literature only	This variant has been reported in the following publications (PMID:11997281;PMID:17161064;PMID:17675083;PMID:17993325;PMID:19841300;PMID:20129283).
Clinical Genetics, Academic Medical Center	RCV000041594	SCV001920386	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000041594	SCV001929016	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041594	SCV001959457	benign	not specified		no assertion criteria provided	clinical testing