ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) (rs201950393)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718813 SCV000849677 likely benign History of neurodevelopmental disorder 2017-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)
GeneDx RCV000435151 SCV000512575 likely benign not specified 2018-02-05 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 RCV000460988 SCV000553248 uncertain significance Epileptic encephalopathy, childhood-onset 2018-06-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1756 of the CHD2 protein (p.Gln1756His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs201950393, ExAC 0.04%) 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: "Not Scored"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, 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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