ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) (rs587781009)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622218 SCV000735425 likely benign Cardiovascular phenotype 2016-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000150861 SCV000169952 benign not specified 2012-03-07 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 Clinical Services Laboratory,Illumina RCV000293391 SCV000370210 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348437 SCV000370211 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000196837 SCV000370212 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290023 SCV000370213 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345037 SCV000370214 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000196837 SCV000253121 likely benign Long QT syndrome 2018-01-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150861 SCV000198420 likely benign not specified 2016-10-18 criteria provided, single submitter clinical testing p.Ala69Ala variant in exon 1 of KCNQ1: This variant is not expected to have cli nical significance because it does not alter an amino acid residue, it is not lo cated within the splice consensus sequence, and it has been identified in 0.3% ( 10/3698) of European chromosomes by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org).
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000150861 SCV000740345 benign not specified 2016-09-22 criteria provided, single submitter clinical testing

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