ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) (rs1060503518)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711179 SCV000841510 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing
Invitae RCV000473655 SCV000553244 uncertain significance Epileptic encephalopathy, childhood-onset 2016-10-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 565 of the CHD2 protein (p.Ile565Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency) and 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 C25"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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