ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.77-5C>A (rs72549419)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558920 SCV000627499 uncertain significance Long QT syndrome 2017-07-03 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the KCNH2 gene. It does not directly change the encoded amino acid sequence of the KCNH2 protein. This variant is present in population databases (rs72549419, ExAC 0.04%) but has not been reported in the literature in individuals with a KCNH2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare intronic change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000772106 SCV000905142 uncertain significance Arrhythmia 2018-10-02 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This intronic variant is located near the intron 1 splice acceptor site in the KCNH2 gene. Computational splicing tools suggest that this variant may impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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