ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.115T>C (p.Cys39Arg) (rs757491162)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559174 SCV000627416 uncertain significance Long QT syndrome 2017-07-10 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 39 of the KCNH2 protein (p.Cys39Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs757491162, ExAC 0.002%). This variant has been reported in an individual affected with long QT syndrome (PMID: 23174487). This variant identified in the KCNH2 gene is located in the cytoplasmic N-terminal region of the resulting protein (PMID: 19841300, 25348405). For more information about the location of this variant, please visit www.invitae.com/KCNH2-topology. Experimental studies have shown that this missense change results in normal KCNH2 protein expression in cell culture (PMID: 26958806). In summary, this variant is a rare missense change that does not affect protein expression. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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