ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)

gnomAD frequency: 0.00009  dbSNP: rs200275211
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612614 SCV000728595 likely benign not specified 2018-01-02 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.
Invitae RCV000870181 SCV001011663 likely benign Long QT syndrome 2024-01-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001841774 SCV001357943 likely benign Cardiac arrhythmia 2018-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395620 SCV002696928 likely benign Cardiovascular phenotype 2019-05-03 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.
Fulgent Genetics, Fulgent Genetics RCV002476365 SCV002804350 likely benign Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 2021-07-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000870181 SCV004836444 likely benign Long QT syndrome 2024-01-11 criteria provided, single submitter clinical testing

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