ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) (rs186163798)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718502 SCV000849366 likely benign History of neurodevelopmental disorder 2017-04-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
GeneDx RCV000195014 SCV000535203 likely benign not specified 2017-07-07 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.
Genetic Services Laboratory, University of Chicago RCV000195014 SCV000247011 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
Invitae RCV000467818 SCV000553249 uncertain significance Epileptic encephalopathy, childhood-onset 2018-09-14 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 80 of the CHD2 protein (p.Pro80Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs186163798, ExAC 0.02%) but has not been reported in the literature in individuals with a CHD2-related disease. ClinVar contains an entry for this variant (Variation ID: 210710). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It is not expected to cause disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics RCV000195014 SCV000307171 likely benign not specified criteria provided, single submitter clinical testing

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