ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2804C>A (p.Ser935Tyr) (rs775803239)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546891 SCV000648450 uncertain significance Brugada syndrome 8 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 935 of the HCN4 protein (p.Ser935Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs775803239, ExAC 0.05%). This variant has been observed in an individual who suffered a sudden death (PMID: 30578647). ClinVar contains an entry for this variant (Variation ID: 470659). This variant has been reported to 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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