ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.555_569del (p.Gly186_Ala190del) (rs1554427907)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552293 SCV000627493 uncertain significance Long QT syndrome 2017-06-14 criteria provided, single submitter clinical testing This variant, c.555_569del, results in the deletion of 5 amino acids of the KCNH2 protein (p.Gly186_Ala190del), but otherwise preserves the integrity of the reading frame. 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 a KCNH2-related disease. In summary, this variant has uncertain impact on KCNH2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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