ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1685A>G (p.His562Arg) (rs199472922)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544355 SCV000627432 pathogenic Long QT syndrome 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 562 of the KCNH2 protein (p.His562Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with long QT syndrome (LQTS) in a family (PMID: 25819988), and it has been reported in unrelated individuals affected with this condition or referred for genetic testing (PMID: 19716085, Invitae). This variant has been reported to affect KCNH2 protein function (PMID: 25417810). This variant disrupts the p.His562 amino acid residue in KCNH2. Other variant(s) that disrupt this residue have been observed in individuals with KCNH2-related conditions (PMID: 15242738), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057943 SCV000089463 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.

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