ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2197G>A (p.Gly733Arg) (rs372259202)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730328 SCV000858056 uncertain significance not provided 2017-11-09 criteria provided, single submitter clinical testing
GeneDx RCV000730328 SCV000570016 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CC2D2A gene. The G733R 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 with any significant frequency in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, and the 1000 Genomes Project reports it was observed in 0.5-1.5% of alleles from individuals of East Asian background. The G733R 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; however, Arginine is observed at this position in evolution. In silico analysis is inconsistent in its predictions as to whether or not the G733R variant is 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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