ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.87C>A (p.Phe29Leu) (rs199472830)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068013 SCV001233100 pathogenic Long QT syndrome 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 29 of the KCNH2 protein (p.Phe29Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with long QT syndrome (LQTS) and observed to segregate with LQTS in a family (PMID: 17088455, 26403377). ClinVar contains an entry for this variant (Variation ID: 67538). This variant has been reported to affect KCNH2 protein function (PMID: 26403377, 22396785, 25417810, 21536673, 23721480, 10187793, 30988392). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058267 SCV000089787 not provided Congenital long QT syndrome no assertion provided literature only This variant has been reported as associated with Long QT syndrome in the following publications (PMID:10187793;PMID:10973849;PMID:11668638;PMID:11854117;PMID:15840476;PMID:15851171;PMID:16937190;PMID:19716085;PMID:21536673;PMID:22396785). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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