ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) (rs148121889)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000126447 SCV000055276 likely benign not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000180989 SCV000169954 benign not specified 2015-04-17 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, Partners HealthCare Personalized Medicine RCV000180989 SCV000270314 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing p.Thr153Thr in Exon 02 of KCNQ1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (18/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs148121889).
Invitae RCV000226452 SCV000283882 benign Long QT syndrome 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331279 SCV000370225 benign Short QT syndrome 2 2018-01-12 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 Clinical Services Laboratory,Illumina RCV001094022 SCV000370226 likely benign Long QT syndrome 1 2018-01-12 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 Clinical Services Laboratory,Illumina RCV000291516 SCV000370227 uncertain significance Atrial fibrillation, familial, 3 2018-01-12 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000327774 SCV000370228 uncertain significance Jervell and Lange-Nielsen syndrome 1 2018-01-12 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000382303 SCV000370229 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617278 SCV000737449 likely benign Cardiovascular phenotype 2015-10-21 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Synonymous alterations with insufficient evidence to classify as benign
Color Health, Inc RCV000771166 SCV000903050 likely benign Arrhythmia 2018-03-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000126447 SCV001148149 likely benign not provided 2018-08-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000180989 SCV001159697 likely benign not specified 2018-09-18 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000180989 SCV001916993 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000180989 SCV001927472 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000180989 SCV001953213 benign not specified no assertion criteria provided clinical testing

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