ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3428G>T (p.Gly1143Val)

dbSNP: rs1555475094
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551487 SCV000648465 uncertain significance Brugada syndrome 8 2017-06-10 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on HCN4 function. The available evidence is currently insufficient to determine its role 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a HCN4-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 1143 of the HCN4 protein (p.Gly1143Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.

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