ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1012-2A>G (rs1345994016)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658389 SCV000780161 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ABCC9 gene. The c.1012-2 A>G variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is also not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.1012-2 A>G variant destroys the canonical splice acceptor site in intron 6 and is predicted to cause abnormal gene splicing. However, no other splice site variants definitively associated with cardiomyopathy in the ABCC9 gene have been reported in HGMD (Stenson et al., 2014). Additionally, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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