ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2833C>T (p.Pro945Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244410 SCV001417630 uncertain significance Brugada syndrome 8 2019-11-13 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 945 of the HCN4 protein (p.Pro945Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs778739758, ExAC 0.01%). This variant has been reported in the literature in one individual affected with atrial fibrillation (PMID: 24607718). One experimental study has shown that this missense change does not affect negatively the function of the HCN4 protein (PMID: 24607718). In summary, this variant is a rare missense change that has been shown not to affect protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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