ClinVar Miner

Submissions for variant NM_001195553.2(DCX):c.389A>G (p.Asp130Gly)

dbSNP: rs1064795427
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480476 SCV000571218 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing The D130G variant in the DCX gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D130G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret D130G as a variant of uncertain significance.

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