ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2132-7C>A (rs782755390)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198856 SCV000250052 uncertain significance not provided 2017-06-09 criteria provided, single submitter clinical testing The c.2132-7C>A variant in the ELN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. Splice-prediction programs suggest that this variant reduces the quality of the splice acceptor site in intron 33 and that this variant may create a cryptic acceptor site, which is expected to cause abnormal gene splicing. The c.2132-7C>A 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 benign variant in these populations. We interpret c.2132-7C>A as a variant of uncertain significance.

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