ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) (rs28730756)

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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 RCV000242188 SCV000318903 benign Cardiovascular phenotype 2016-06-17 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 RCV000057573 SCV000089092 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:14661677;PMID:17210839;PMID:19841300).
Color RCV000771808 SCV000904509 benign Arrhythmia 2018-03-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317130 SCV000370285 likely benign Romano-Ward syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203763 SCV000370286 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274151 SCV000370287 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331626 SCV000370288 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383717 SCV000370289 likely benign Jervell and Lange-Nielsen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000203763 SCV000259248 benign Long QT syndrome 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035339 SCV000058987 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Pro408Ala in Exon 09 of KCNQ1: This variant is not expected to have clinical significance because it has been identified in 1.0% (37/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs28730756).

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