ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla) (rs1563156461)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691355 SCV000819131 uncertain significance Long QT syndrome 2018-03-06 criteria provided, single submitter clinical testing This variant, c.1884_1894delinsTGAAG, results in the deletion of four amino acids and the insertion of two amino acids in the KCNH2 protein (p.Asn629_Pro632delinsGluAla), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNH2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. A missense substitution at one of the disrupted codons (p.Asn629Thr) has been determined to be pathogenic (PMID: 17905336, 22573844, 10973849, 16432067, 19841300, 25417810). This suggests that the asparagine residue is critical for KCNH2 protein function and that variants disrupting this residue may also be pathogenic. 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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