ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2147dup (p.Ser717fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817168 SCV000957714 uncertain significance Long QT syndrome 2018-08-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KCNH2 gene (p.Ser1057Glufs*62). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acids of the KCNH2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with longQT syndrome (PMID: 19841300). This variant is also known as Ser1057fs/60 in the literature. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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