Submissions for variant NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=)

gnomAD frequency: 0.00070  dbSNP: rs200594132

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000154832	SCV000171580	benign	not specified	2013-09-17	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	RCV000154832	SCV000204514	likely benign	not specified	2015-03-11	criteria provided, single submitter	clinical testing	p.Ala1932Ala in exon 28 of SCN5A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.4% (39/9766) o f African American chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs200594132).
Ambry Genetics	RCV000243885	SCV000320346	likely benign	Cardiovascular phenotype	2015-10-27	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.
Invitae	RCV003539797	SCV000557108	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842458	SCV000913806	benign	Cardiac arrhythmia	2018-10-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532536	SCV004743000	likely benign	SCN5A-related disorder	2019-04-02	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).