ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.173A>G (p.Glu58Gly) (rs199472847)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181920 SCV000234223 pathogenic not provided 2016-09-19 criteria provided, single submitter clinical testing The Glu58Gly mutation in the KCNH2 gene has been reported in association with LQTS and it was absent from 400 control individuals (Napolitano C et al., 2005). Furthermore, Glu58Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Other mutations at this residue (Glu58Asp, Glu58Ala, Glu58Lys) have been reported in association with LQTS, further supporting the functional importance of this codon and this region of the protein. The variant is found in LQT panel(s).
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000057969 SCV000089489 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:16414944). 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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