ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1786C>G (p.Pro596Ala) (rs863225288)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000202321 SCV000256864 pathogenic Long QT syndrome 2 2015-11-04 criteria provided, single submitter case-control This variant (Pro596Ala) is also present in the father who has the same pathology (long QT syndrome). This missense variant has never been reported before. However, other variants affecting the same amino acid (proline 596) have been reported by ClinVar as pathogenic: Pro596Arg and Pro596His.

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