ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.132C>A (p.Tyr44Ter) (rs139042529)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617940 SCV000738002 pathogenic Cardiovascular phenotype 2017-06-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000814153 SCV000954554 pathogenic Long QT syndrome 2018-10-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr171*) in the KCNQ1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another KCNQ1 variant in individuals affected with Jervell and Lange-Nielsen syndrome (PMID: 11216980, 12051962). This variant has also been observed in patients with clinical features of long QT syndrome (PMID: 14678125) and in an individual with sudden death (PMID: 26187847). ClinVar contains an entry for this variant (Variation ID: 265209). A different variant (c.513C>G) giving rise to the same protein effect observed here (p.Tyr171*) has been reported in individuals affected with clinical features of long QT syndrome (PMID: 17470695, 15840476, 19716085). Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). For these reasons, this variant has been classified as Pathogenic.
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477871 SCV000536844 pathogenic Long QT syndrome 1 2016-02-25 no assertion criteria provided research

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