ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2259_2283del (p.Leu754fs) (rs1554423720)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548545 SCV000627481 uncertain significance Long QT syndrome 2018-12-14 criteria provided, single submitter clinical testing This sequence change deletes 25 nucleotides from exon 14 of the KCNH2 mRNA (c.3279_3303del25), causing a frameshift at codon 1094. This creates a premature translational stop signal in the last exon of the KCNH2 mRNA (p.Leu1094Profs*153). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acids of the KCNH2 protein and to extend the length of the protein by an additional 86 amino acids. 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. Experimental studies have not been reported for this variant and it is currently unknown if the last 66 amino acids of the KCNH2 protein are critical for its function, and the impact of the addition of the 86 amino acids is also unknown. In summary, this variant is a novel deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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