ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) (rs564787975)

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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 RCV000765250 SCV000896498 uncertain significance Epileptic encephalopathy, childhood-onset 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000481395 SCV000570308 uncertain significance not provided 2018-06-20 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CHD2 gene. The R1690Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations, and it was not observed with any significant frequency in the 1000 Genomes Project. This substitution occurs at a position that is conserved across species. The R1690Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, 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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