ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1546G>A (p.Gly516Ser) (rs1800172)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620004 SCV000735842 benign Cardiovascular phenotype 2015-08-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057650 SCV000089169 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:9799083;PMID:10807545;PMID:11761407;PMID:14661677;PMID:15028050;PMID:15500450;PMID:16038262;PMID:16487223;PMID:17016049;PMID:18426444;PMID:19841300).
Color RCV000776058 SCV000910693 benign Arrhythmia 2018-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150875 SCV000341827 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359475 SCV000370386 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264808 SCV000370387 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324628 SCV000370388 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360577 SCV000370389 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261157 SCV000370390 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030109 SCV000052764 benign Cardiac arrhythmia 2013-02-12 no assertion criteria provided clinical testing
Invitae RCV000324628 SCV000555791 benign Long QT syndrome 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150875 SCV000198439 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Gly643Ser in Exon 16 of KCNQ1: This variant is not expected to have clinical sig nificance because it has been identified in 2.0% (72/3634) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs1800172).

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