Submissions for variant NM_000219.6(KCNE1):c.84G>A (p.Ser28=)

gnomAD frequency: 0.00676  dbSNP: rs17173510

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155364	SCV000205051	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Ser28Ser in Exon 03 of KCNE1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.6% (40/7020) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17173510)."
Invitae	RCV000228309	SCV000283891	benign	Long QT syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000248775	SCV000318604	benign	Cardiovascular phenotype	2016-04-11	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.
Eurofins Ntd Llc (ga)	RCV000155364	SCV000332686	benign	not specified	2015-07-17	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094635	SCV000435791	likely benign	Long QT syndrome 5	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000393664	SCV000435792	likely benign	Jervell and Lange-Nielsen syndrome 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589403	SCV000695997	benign	not provided	2016-08-09	criteria provided, single submitter	clinical testing	Variant summary: The KCNE1 c.84G>A (p.Ser28Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. This variant was found in 438/120954 control chromosomes at a frequency of 0.0036212, which is approximately 362 times the estimated maximal expected allele frequency of a pathogenic KCNE1 variant (0.00001), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign and multiple publications have classified the variant as "normal/polymorphism". Taken together, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000589403	SCV001153554	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	ENSG00000276289: BP4, BP7; KCNE1: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000589403	SCV001477537	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000589403	SCV001886886	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498753	SCV002809436	benign	Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5	2022-02-17	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000155364	SCV001922332	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000589403	SCV001928212	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000155364	SCV001954224	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000589403	SCV001975785	likely benign	not provided		no assertion criteria provided	clinical testing