ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2327C>T (p.Pro776Leu) (rs1008825259)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694706 SCV000823163 uncertain significance Brugada syndrome 8 2018-04-20 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 776 of the HCN4 protein (p.Pro776Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HCN4-related disease. 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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