ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.751C>T (p.Pro251Ser) (rs199472873)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000684941 SCV000812405 uncertain significance Long QT syndrome 2018-01-30 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 251 of the KCNH2 protein (p.Pro251Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in an individual affected with Romano-Ward syndrome (PMID: 16414944). ClinVar contains an entry for this variant (Variation ID: 67523). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058252 SCV000089772 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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