ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) (rs727503033)

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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 RCV000150644 SCV000197981 pathogenic Supravalvar aortic stenosis 2012-07-30 criteria provided, single submitter clinical testing The p.Tyr595X variant in ELN has not been previously reported in individuals wit h SVAS and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 595, which is predicted to lead to a truncated or absent protein. Heterozygous loss-of-function of the ELN gene is an established disease mechanism in SVAS (Human Gene Mutation Database, HGMD). In summary, the p.Tyr595X variant meets our criteria to be classified as pathoge nic for SVAS in an autosomal dominant manner (http://pcpgm.partners.org/lmm).

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