ClinVar Miner

Submissions for variant NM_005691.3(ABCC9):c.1618+2T>G (rs1273224034)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497369 SCV000590241 uncertain significance not provided 2017-06-06 criteria provided, single submitter clinical testing The c.1618+2T>G variant in the ABCC9 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 10. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. However, loss of function variants, like c.1618+2T>G, are not a well established mechanism of disease for ABCC9-related disorders (Stenson et al., 2014). The c.1618+2T>G variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1618+2T>G as a variant of uncertain significance.

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