Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |