ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu) (rs1555444210)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523109 SCV000621365 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing The V1163L variant in the CHD2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1163L variant is not observed in large population cohorts (Lek et al., 2016). The V1163L variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1163L as a variant of uncertain significance
Invitae RCV000817357 SCV000957911 uncertain significance Epileptic encephalopathy, childhood-onset 2018-11-14 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 1163 of the CHD2 protein (p.Val1163Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHD2-related disease. ClinVar contains an entry for this variant (Variation ID: 452549). 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 C25"). 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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