Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546891 | SCV000648450 | likely benign | Brugada syndrome 8 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438453 | SCV002748099 | uncertain significance | Cardiovascular phenotype | 2022-04-21 | criteria provided, single submitter | clinical testing | The p.S935Y variant (also known as c.2804C>A), located in coding exon 8 of the HCN4 gene, results from a C to A substitution at nucleotide position 2804. The serine at codon 935 is replaced by tyrosine, an amino acid with dissimilar properties. This variant was detected in a sudden death victim; however, details were limited, and in vitro studies by one group suggested this variant may not impact protein function (Dong J et al. Pacing Clin Electrophysiol, 2019 02;42:275-282). This amino acid position is not well 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. |