ClinVar Miner

Submissions for variant NM_181798.1(KCNQ1):c.1305-2A>G (rs878854350)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000234808 SCV000240223 pathogenic Long QT syndrome 1 2011-01-01 criteria provided, single submitter research
Invitae RCV000456381 SCV000543298 likely pathogenic Long QT syndrome 2017-03-08 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the KCNQ1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in a individual affected with a recessive form of long QT syndrome (PMID: 27041150). ClinVar contains an entry for this variant (Variation ID: 207973). Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in KCNQ1 are known to be pathogenic (PMID: 19862833). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Ambry Genetics RCV000621754 SCV000736404 likely pathogenic Cardiovascular phenotype 2017-02-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786150 SCV000924825 pathogenic not provided 2017-03-09 no assertion criteria provided provider interpretation

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