ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.164-2A>C (rs782096458)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430802 SCV000518342 likely pathogenic not provided 2016-12-22 criteria provided, single submitter clinical testing The c.164-2A>C variant in the ELN 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 acceptor site in intron 3, which is predicted to cause abnormal gene splicing. The c.164-2A>C variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common variant in these populations. We interpret c.164-2A>C as a likely pathogenic variant.

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