ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.634A>T (p.Lys212Ter) (rs1554672587)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000614385 SCV000712006 pathogenic Supravalvar aortic stenosis 2016-04-20 criteria provided, single submitter clinical testing The p.Lys212X variant in ELN has not been previously reported in individuals wit h congenital heart disease or in large population studies. This nonsense variant leads to a premature termination codon at position 212, which is predicted to l ead to a truncated or absent protein. Heterozygous loss of function of the ELN g ene is an established disease mechanism in SVAS. In summary, the p.Lys212X varia nt meets our criteria to be classified as pathogenic for SVAS in an autosomal do minant manner (

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