ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2183A>G (p.Gln728Arg) (rs151031345)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000200795 SCV000212184 likely benign Long QT syndrome 2015-03-11 criteria provided, single submitter research
Invitae RCV000200795 SCV000253123 likely benign Long QT syndrome 2015-02-03 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1068 of the KCNH2 protein (p.Gln1068Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine. Although this variant has been reported in the literature in individuals affected with SIDS and long QT syndrome (PMID: 14975928, 22949429), it has also been reported in a number of healthy individuals (PMID: 14661677, 14975928) and is present in population databases (rs151031345, 0.05%). ClinVar contains an entry for this variant (RCV000058209). Experimental studies which measured expression, processing and activity of channels carrying this mutation have not detected changes in expression or detrimental functional effects (PMID: 23303164, 14975928). In summary, this missense change has been reported in multiple unaffected individuals and population controls, and it has not been shown to cause a deleterious effect on protein function. For these reasons, it has been classified as Likely Benign.
Ambry Genetics RCV000620371 SCV000737388 uncertain significance Cardiovascular phenotype 2016-03-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,Intact protein function observed in appropriate functional assay(s),Deficient protein function in appropriate functional assay(s)
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058209 SCV000089729 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:14661677;PMID:19841300).

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