Submissions for variant NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)

gnomAD frequency: 0.00760  dbSNP: rs1800172

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150875	SCV000198439	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Gly643Ser in Exon 16 of KCNQ1: This variant is not expected to have clinical sig nificance because it has been identified in 2.0% (72/3634) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs1800172).
Eurofins Ntd Llc (ga)	RCV000150875	SCV000341827	benign	not specified	2016-05-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000359475	SCV000370386	likely benign	Jervell and Lange-Nielsen syndrome 1	2018-02-27	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	RCV000264808	SCV000370387	likely benign	Short QT syndrome type 2	2018-02-27	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	RCV001094060	SCV000370388	likely benign	Long QT syndrome 1	2018-02-27	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	RCV000360577	SCV000370389	likely benign	Atrial fibrillation, familial, 3	2018-02-27	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.
Invitae	RCV000324628	SCV000555791	benign	Long QT syndrome	2024-01-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620004	SCV000735842	benign	Cardiovascular phenotype	2015-08-13	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.
Color Diagnostics, LLC DBA Color Health	RCV001841535	SCV000910693	benign	Cardiac arrhythmia	2018-03-19	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000057650	SCV001144350	benign	not provided	2018-11-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000057650	SCV001156961	benign	not provided	2023-09-14	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV001094060	SCV001433425	benign	Long QT syndrome 1	2019-10-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000057650	SCV001849452	benign	not provided	2020-03-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30462975, 29431662, 14661677, 29021305, 29855564, 21139297, 16563243, 17222736, 15746444, 16487223, 11761407, 24388587, 28704380, 26385840, 26159999, 24284363, 24762593, 22949429, 22378279, 22677073, 24573873, 27875062)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001841535	SCV000052764	benign	Cardiac arrhythmia	2013-02-12	no assertion criteria provided	clinical testing
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	RCV000057650	SCV000089169	not provided	not provided		no assertion provided	literature only	This variant has been reported in the following publications (PMID:9799083;PMID:10807545;PMID:11761407;PMID:14661677;PMID:15028050;PMID:15500450;PMID:16038262;PMID:16487223;PMID:17016049;PMID:18426444;PMID:19841300).
Clinical Genetics, Academic Medical Center	RCV000150875	SCV001921897	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000150875	SCV001927266	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000150875	SCV001956053	benign	not specified		no assertion criteria provided	clinical testing