Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210577 | SCV001382072 | uncertain significance | Long QT syndrome | 2019-09-24 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with isoleucine at codon 152 of the KCNH2 protein (p.Thr152Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Brugada syndrome (PMID: 24400717). This variant has been reported to affect KCNH2 protein function (PMID: 24400717). 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. |