Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222145 | SCV001394232 | uncertain significance | Brugada syndrome 8 | 2022-12-02 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with HCN4-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 950437). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln930*) in the HCN4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 274 amino acid(s) of the HCN4 protein. |