ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2067_2076delinsGC (p.Ser689fs) (rs1554424085)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631579 SCV000752661 uncertain significance Long QT syndrome 2017-10-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KCNH2 gene (p.Gly1031Alafs*85). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 131 amino acids of the KCNH2 protein. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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. However, this variant is located in the C-terminal region of this gene that has been suggested to be involved in KCNH2 protein trafficking (PMID: 12021266). 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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