ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.618T>A (p.Tyr206Ter) (rs863223513)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196516 SCV000250039 likely pathogenic not provided 2015-12-04 criteria provided, single submitter clinical testing The Y206X nonsense variant in the ELN gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, other nonsense or frameshift variants in ELN account for two-thirds of pathogenic variants associated with supravalvular aortic stenosis (Metcalfe K et al., 2000). Furthermore, this variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating that it is not a common benign variant in these populations.

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