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 (http://pcpgm.partners.org/lmm).

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