ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2138G>A (p.Arg713His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003061617 SCV003461733 uncertain significance Brugada syndrome 8 2023-05-15 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 2152249). This missense change has been observed in individual(s) with idiopathic ventricular fibrillation (PMID: 29032884). This variant is present in population databases (rs748074312, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 713 of the HCN4 protein (p.Arg713His).

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