ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.1394T>C (p.Phe465Ser) (rs199472999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182046 SCV000234349 pathogenic not provided 2012-02-02 criteria provided, single submitter clinical testing The Phe805Ser mutation in the KCNH2 gene has been reported previously in one individual with a diagnosis of LQTS and it was absent from more than 400 control alleles. Additionally, the NHLBI ESP Exome Variant Server reports Phe805Ser was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Phe805Ser results in a non-conservative amino acid substitution of a non-polar Phenylalanine residue with a polar Serine residue. Other mutations in this codon (Phe805Cys) and in nearby codons (Gly800Glu, Gly800Trp, Gly806Glu) have been reported in association with LQTS, further supporting the functional importance of this residue and this region of the protein. Therefore, the presence of the Phe805Ser mutation in the KCNH2 gene is consistent with a diagnosis of LQTS. The variant is found in LQT panel(s).
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058118 SCV000089638 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:10973849). 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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