Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000690304 | SCV000817986 | uncertain significance | Long QT syndrome | 2018-04-11 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with threonine at codon 30 of the KCNH2 protein (p.Ile30Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant was reported in an individual referred for long QT syndrome testing (PMID: 19716085).  ClinVar contains an entry for this variant (Variation ID: 67541). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
| Cardiovascular Biomedical Research Unit, |
RCV000058270 | SCV000089790 | not provided | Congenital long QT syndrome | no assertion provided | literature only | This variant has been reported as associated with Long QT syndrome in the following publications (PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory. |