ClinVar Miner

Submissions for variant NM_172057.2(KCNH2):c.2335G>C (p.Glu779Gln) (rs199473033)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820299 SCV000961007 uncertain significance Long QT syndrome 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 1119 of the KCNH2 protein (p.Glu1119Gln). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNH2-related disease. ClinVar contains an entry for this variant (Variation ID: 67492). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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 RCV000058221 SCV000089741 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:19841300).

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