ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3064C>T (p.Arg1022Ter) (rs762950777)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559988 SCV000648457 uncertain significance Brugada syndrome 8 2017-03-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the HCN4 mRNA at codon 1022 (p.Arg1022*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 181 amino acids of the HCN4 protein. This variant is present in population databases (rs762950777, ExAC 0.009%) but has not been reported in the literature in individuals with a HCN4-related disease. Experimental studies have not been reported for this truncating variant and it is currently unknown if the last 181 amino acids of the HCN4 protein are critical for its function. In summary, this variant is a rare nonsense variant with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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