ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.551_559GCGCGGGCG[3] (p.184_186GAG[3]) (rs551056698)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181959 SCV000234262 uncertain significance Cardiac arrhythmia 2014-07-15 criteria provided, single submitter clinical testing c.560_568dupGCGCGGGCG; p.Gly187_Gly189dup in exon 4 of the KCNH2 gene (NM_000238.2). The normal sequence with the bases that are duplicated in braces is GGGCG{GCGCGGGCG}CCCCG.The c.560_568dupGCGCGGGCG variant in the KCNH2 gene has been reported in one individual with congenital LQTS and atrial fibrillation (Johnson J et al., 2008). The c.560_568dupGCGCGGGCG variant results in an in-frame duplication of three amino acids. Mutations in nearby residues have not been reported, indicating this region of the protein may tolerate change.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in ARRHYTHMIA panel(s).
Invitae RCV000691109 SCV000818852 uncertain significance Long QT syndrome 2018-03-01 criteria provided, single submitter clinical testing This variant, c.560_568dupGCGCGGGCG, results in the insertion of 3 amino acids to the KCNH2 protein (p.Gly187_Gly189dup), 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. ClinVar contains an entry for this variant (Variation ID: 200604). This variant identified in the KCNH2 gene is located in the cytoplasmic N-terminal region of the resulting protein (PMID: 19841300, 25348405), but it is unclear how this variant impacts the function of this protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. 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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