ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1397A>T (p.Asp466Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801222 SCV000940991 uncertain significance Long QT syndrome 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 466 of the KCNH2 protein (p.Asp466Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with longQT syndrome (Invitae). This variant has been reported to affect KCNH2 protein function (PMID: 12771194). 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.

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