ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.167G>A (p.Arg56Gln) (rs199472845)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462413 SCV000543439 likely pathogenic Long QT syndrome 2018-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 56 of the KCNH2 protein (p.Arg56Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (rs199472845, ExAC no frequency). This variant has been reported in at least one family affected with long QT syndrome (PMID: 10973849, 11854117). ClinVar contains an entry for this variant (Variation ID: 67228). Experimental studies have shown that this missense change accelerates the rate of KCNH2 channel deactivation (PMID: 10187793, 15475579, 20876384, 21536673, 25008322,25809256, 25923442). For these reasons, this variant has been classified as Likely Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057938 SCV000089458 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:10187793;PMID:10973849;PMID:11854117;PMID:21536673;PMID:22396785). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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