ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1934A>G (p.Asn645Ser) (rs199473541)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698170 SCV000826815 uncertain significance Long QT syndrome 2018-04-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 985 of the KCNH2 protein (p.Asn985Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Brugada syndrome (PMID: 16043162). ClinVar contains an entry for this variant (Variation ID: 67456). Experimental studies have shown that this missense change results in a protein with most, but not all function retained (PMID: 16043162). 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,Royal Brompton & Harefield NHS Foundation Trust RCV000058183 SCV000089703 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:16043162).

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