ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4729G>A (p.Ala1577Thr) (rs199695154)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479727 SCV000570525 uncertain significance not provided 2019-01-11 criteria provided, single submitter clinical testing The A1577T variant in the CC2D2A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A1577T variant was not observed with any significant frequency in approximately 6,000 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 A1577T 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 across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A1577T as a variant of uncertain significance.

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