ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3976-18C>G (rs375782772)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480084 SCV000569569 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CC2D2A gene. The c.3976-18 C>G variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.3976-18 C>Gvariant was not observed with any significant frequency in approximately 5,900 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project. Several in-silico splice prediction models predict thatc.3976-18 C>G may damage or destroy the natural splice acceptor site for intron 31 and create a cryptic acceptor sitewhich may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of thissequence change is unknown. Additionally, this substitution occurs at a position that is notconserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenicvariant or a rare benign variant.

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