ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg) (rs146655995)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430434 SCV000526620 likely benign not specified 2016-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000475507 SCV000553253 uncertain significance Epileptic encephalopathy, childhood-onset 2016-09-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1360 of the CHD2 protein (p.Gly1360Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs146655995, ExAC 0.05%) but has not been reported in the literature in individuals with a CHD2-related disease. 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: "Benign"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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