ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.202T>C (p.Phe68Leu) (rs199473417)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181933 SCV000234236 likely pathogenic not provided 2014-05-10 criteria provided, single submitter clinical testing p.Phe68Leu (TTC>CTC): c.202 T>C in exon 2 of the KCNH2 gene (NM_000238.2)The F68L variant in the KCNH2 gene has been published previously in a single patient with Romano Ward Syndrome (RWS) (Napolitano et al., 2005). The F68L variant 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. The F68L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in silico analysis predicts this variant is probably damaging to the protein structure/function. Furthermore, missense mutations in nearby residues (T65P, C66G, L69P, L69Q, H70N) have been reported in association with LQTS, supporting the functional importance of this region of the protein.Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in LQT panel(s).
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058075 SCV000089595 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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