Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179452 | SCV000231703 | uncertain significance | not provided | 2014-11-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001346820 | SCV001541052 | likely benign | Brugada syndrome 8 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408779 | SCV002720600 | uncertain significance | Cardiovascular phenotype | 2022-03-09 | criteria provided, single submitter | clinical testing | The p.V639M variant (also known as c.1915G>A), located in coding exon 6 of the HCN4 gene, results from a G to A substitution at nucleotide position 1915. The valine at codon 639 is replaced by methionine, an amino acid with highly similar properties. This variant has been detected in individuals from a thoracic aortic aneurysm and dissection cohort (Hanania HL et al. Circ Genom Precis Med, 2019 12;12:e002626). This amino acid position is highly 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. |