ClinVar Miner

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

gnomAD frequency: 0.16286  dbSNP: rs1057128
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Total submissions: 16
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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: 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.
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
All of Us Research Program, National Institutes of Health RCV000368527 SCV004836468 benign Long QT syndrome 2024-02-05 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

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