Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647269 | SCV000769058 | likely benign | Brugada syndrome 8 | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562046 | SCV001784753 | likely benign | not provided | 2021-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440333 | SCV002746747 | uncertain significance | Cardiovascular phenotype | 2023-01-22 | criteria provided, single submitter | clinical testing | The p.A944T variant (also known as c.2830G>A), located in coding exon 8 of the HCN4 gene, results from a G to A substitution at nucleotide position 2830. The alanine at codon 944 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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. |