ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.881G>T (p.Gly294Val) (rs771390521)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765248 SCV000896495 uncertain significance Epileptic encephalopathy, childhood-onset 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000413939 SCV000492357 uncertain significance not specified 2016-12-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CHD2 gene. The G294V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The G294V variant is observed in 1/66,682 (0.002%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G294V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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