ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.2044del (p.Glu682fs)

dbSNP: rs1584852174
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute RCV000999583 SCV001156285 pathogenic Long QT syndrome 2018-11-21 criteria provided, single submitter research KCNH2 Glu682Serfs*32 has not been reported previously and is absent in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a proband diagnosed with Long QT syndrome (Burns C, et al., 2016). There is a strong family history of disease and the variant has been found to segregate to 2 affected family members (6 meiosis). Based on this information, we classify KCNH2 Glu682Serfs*32 as 'pathogenic'.

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