ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.594G>C (p.Gln198His) (rs374064833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768176 SCV000898595 uncertain significance Epileptic encephalopathy, childhood-onset 2018-01-30 criteria provided, single submitter clinical testing CHD2 NM_001271.3 exon 7 p.Gln198His (c.594G>C): This variant has not been reported in the literature but is present in 10/17246 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs374064833). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000768176 SCV000947828 uncertain significance Epileptic encephalopathy, childhood-onset 2018-08-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 198 of the CHD2 protein (p.Gln198His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs374064833, ExAC 0.03%). This variant has not been reported in the literature in individuals with CHD2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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