ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1013-8C>T (rs371488379)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777770 SCV000913741 likely benign Arrhythmia 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000155134 SCV000169943 benign not specified 2014-02-03 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 RCV000317191 SCV000370331 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387984 SCV000370332 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000295959 SCV000370333 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348591 SCV000370334 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387233 SCV000370335 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588614 SCV000695985 benign not provided 2016-08-29 criteria provided, single submitter clinical testing Variant summary: The KCNQ1 c.1394-8C>T variant involves the alteration of a non-conserved intronic nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 21/121140 (1/5767), which exceeds the estimated maximal expected allele frequency for a pathogenic KCNQ1 variant of 1/10000 (0.0001), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. However, multiple clinical laboratories have cited the variant as "likely benign/benign." Therefore, the variant of interest has been classified as Benign.
Invitae RCV000317191 SCV000555793 benign Long QT syndrome 2017-02-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155134 SCV000204820 likely benign not specified 2014-04-01 criteria provided, single submitter clinical testing 1394-8C>T in intron 10: This variant is not expected to have clinical significan ce because it does not diverge from the splice consensus sequence. It has been identified in 0.11% (5/4404) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/)

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