Submissions for variant NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=)

gnomAD frequency: 0.16286  dbSNP: rs1057128

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035344	SCV000058992	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Ser546Ser in Exon 13 of KCNQ1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 19.7% (1379/6990) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1057128)."
GeneDx	RCV000035344	SCV000169945	benign	not specified	2011-07-10	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.
PreventionGenetics, part of Exact Sciences	RCV000035344	SCV000303045	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253955	SCV000317417	benign	Cardiovascular phenotype	2015-06-18	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	RCV000397478	SCV000370361	benign	Jervell and Lange-Nielsen syndrome 1	2017-04-27	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000300054	SCV000370362	benign	Atrial fibrillation, familial, 3	2017-04-27	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001094058	SCV000370363	benign	Long QT syndrome 1	2017-04-27	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000397505	SCV000370364	benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000315174	SCV000370365	benign	Short QT syndrome type 2	2017-04-27	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Color Diagnostics, LLC DBA Color Health	RCV001841558	SCV000902554	benign	Cardiac arrhythmia	2018-03-16	criteria provided, single submitter	clinical testing
Invitae	RCV000368527	SCV001000416	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes	RCV001094058	SCV004024198	benign	Long QT syndrome 1	2023-08-01	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035344	SCV001924282	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035344	SCV001954561	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000368527	SCV003803667	likely benign	Long QT syndrome	2022-09-23	no assertion criteria provided	clinical testing