ClinVar Miner

Submissions for variant NM_020785.2(CC2D2A):c.263G>A (p.Arg88Gln) (rs373080748)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000331852 SCV000329210 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing The E53K variant in the CC2D2A gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The E53K variant was not observed with any significant frequency in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these population. The E53K 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 not conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret E53K as a variant of unknown significance.

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