ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.196G>C (p.Glu66Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240953 SCV001413940 uncertain significance Brugada syndrome 8 2019-09-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 66 of the HCN4 protein (p.Glu66Gln). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and glutamine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in an individual with unexplained death (PMID: 30578647). This variant has been reported not to substantially affect HCN4 protein function (PMID: 30578647). 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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