ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2420G>A (p.Arg807His)

gnomAD frequency: 0.00036  dbSNP: rs200395062
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711884 SCV000589981 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33954932)
Invitae RCV000647249 SCV000769038 likely benign Brugada syndrome 8 2023-12-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711884 SCV000842295 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446971 SCV002735181 uncertain significance Cardiovascular phenotype 2021-07-22 criteria provided, single submitter clinical testing The p.R807H variant (also known as c.2420G>A), located in coding exon 8 of the HCN4 gene, results from a G to A substitution at nucleotide position 2420. The arginine at codon 807 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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