ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1129-2_1145dup

dbSNP: rs1801235489
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235221 SCV001407897 uncertain significance Long QT syndrome 2019-10-24 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the KCNH2 gene. It does not directly change the encoded amino acid sequence of the KCNH2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNH2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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