ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.77-3_77-2dup

dbSNP: rs1554431003
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465424 SCV000543428 uncertain significance Long QT syndrome 2016-08-30 criteria provided, single submitter clinical testing In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a KCNH2-related disease. 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.

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