ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.355G>C (p.Asp119His) (rs376308069)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467908 SCV000543454 uncertain significance Long QT syndrome 2018-01-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 119 of the KCNH2 protein (p.Asp119His). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs376308069, ExAC 0.05%). This variant has been reported in an individual affected with atrioventricular (AV) node disease (PMID: 26746457). ClinVar contains an entry for this variant (Variation ID: 405352). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant identified in the KCNH2 gene is located in the cytoplasmic PAC region of the resulting protein (PMID: 19841300), but it is unclear how this variant impacts the function of this protein. In summary, this variant is a rare missense change that has been reported in an individual affected with AV node disease and has an uncertain impact on protein function. In the absence of further supportive evidence this variant has been classified as a Variant of Uncertain Significance.

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