ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.3780G>C (p.Glu1260Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004727193 SCV005329565 uncertain significance Developmental and epileptic encephalopathy 94 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.3780G>C (p.Glu1260Asp) variant in CHD2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu1260Asp variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Polymorphism) predict no damaging effect on protein structure and function for this variant. The amino acid change p.Glu1260Asp in CHD2 is predicted as conserved by PhyloP across 100 vertebrates. The amino acid Glu at position 1260 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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