ClinVar Miner

Submissions for variant NM_005477.3(HCN4):c.2420G>A (p.Arg807His) (rs200395062)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000711884 SCV000589981 uncertain significance not provided 2017-05-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the HCN4 gene. The R807H variant has not been published as pathogenic or been reported as benign to our knowledge. This variant has been observed in 3/6060 (0.05%) alleles from individuals of Finnish European ancestry, and in 7/62738 (0.01%) alleles from individuals of Non-Finnish European ancestry, in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R807H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position where amino acids with similar properties to arginine (R) are tolerated across species, and histidine (H) is the wild-type residue at this position in multiple non-mammalian species. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Invitae RCV000647249 SCV000769038 likely benign Brugada syndrome 8 2020-08-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711884 SCV000842295 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing

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