ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3985G>C (p.Ala1329Pro) (rs951039594)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487028 SCV000571575 uncertain significance not provided 2016-09-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CC2D2A gene. The c.3985 G>C 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 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.3985 G>C damages the natural acceptor site for exon 32 and may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. If c.3985 G>C does not affect splicing, it will result in an A1329P missense change. The A1329P 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 the A1329P variant is probably damaging to the protein structure/function. 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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