ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2350G>A (p.Ala784Thr)

dbSNP: rs1453283899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055916 SCV001220331 uncertain significance Brugada syndrome 8 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 784 of the HCN4 protein (p.Ala784Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. 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 conditions. 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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