ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) (rs755898320)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656035 SCV000588311 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437950 SCV000510594 uncertain significance not provided 2017-02-09 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
GeneDx RCV000614942 SCV000726264 likely benign not specified 2018-01-05 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 RCV000706980 SCV000836056 uncertain significance Epileptic encephalopathy, childhood-onset 2018-03-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1512 of the CHD2 protein (p.Arg1512Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs755898320, ExAC 0.003%). This variant has not been reported in the literature in individuals with CHD2-related disease. ClinVar contains an entry for this variant (Variation ID: 376779). 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: "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.

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