ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.3386G>A (p.Ser1129Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001317902 SCV001508582 uncertain significance Brugada syndrome 8 2020-10-29 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 1129 of the HCN4 protein (p.Ser1129Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HCN4-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HCN4 protein function. 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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