Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698598 | SCV000827271 | uncertain significance | Long QT syndrome | 2018-03-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 531 of the KCNH2 protein (p.Arg531Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals referred for long QT syndrome genetic testing. (PMID: 19716085, 28532774). ClinVar contains an entry for this variant (Variation ID: 67218). Experimental studies have shown that this missense change alters KCNH2 channel gating (PMID: 23546015). 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, |
RCV000057927 | SCV000089447 | 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. |