ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.2785G>C (p.Ala929Pro)

dbSNP: rs1064796378
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485895 SCV000573043 uncertain significance not provided 2017-02-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CHD2 gene. The A929P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A929P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A929P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in Human Gene Mutation Database in association with CHD2-related disorders (Stenson et al., 2014). 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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