ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)

gnomAD frequency: 0.00005  dbSNP: rs200670744
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126439 SCV000169946 benign not specified 2013-10-31 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.
Illumina Laboratory Services, Illumina RCV000369840 SCV000370366 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000270219 SCV000370367 likely benign Short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325299 SCV000370368 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365855 SCV000370369 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271382 SCV000370370 likely benign Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000365855 SCV000627385 likely benign Long QT syndrome 2025-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621444 SCV000737626 likely benign Cardiovascular phenotype 2016-07-06 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Color Diagnostics, LLC DBA Color Health RCV001842427 SCV000911574 likely benign Cardiac arrhythmia 2018-05-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492474 SCV002799500 likely benign Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 2021-07-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000126439 SCV004803346 likely benign not specified 2024-01-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000365855 SCV004836478 likely benign Long QT syndrome 2024-08-06 criteria provided, single submitter clinical testing

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