ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.1240G>A (p.Ala414Thr)

dbSNP: rs750638846
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001324752 SCV001515717 uncertain significance Brugada syndrome 8 2020-02-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 414 of the HCN4 protein (p.Ala414Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals with HCN4-related conditions. This variant is present in population databases (rs750638846, ExAC 0.006%).

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