ClinVar Miner

Submissions for variant NM_020785.2(CC2D2A):c.282del (p.Gln94fs) (rs1064793618)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485652 SCV000566614 pathogenic not provided 2015-06-02 criteria provided, single submitter clinical testing The c.176delA deletion in the CC2D2A gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.176delA deletion causes a frameshiftstarting with codon Asparagine 59, changes this amino acid to a Threonine residue, and creates apremature Stop codon at position 15 of the new reading frame, denoted p.Asn59ThrfsX15. This variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediatedmRNA decay. The c.176delA deletion was not observed in approximately 6,000 individuals of Europeanand African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a commonbenign variant in these populations. We interpret c.176delA as a pathogenic variant.

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