ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.435del (p.Leu146fs) (rs727503024)

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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 RCV000150633 SCV000197968 pathogenic Supravalvar aortic stenosis 2016-11-23 criteria provided, single submitter clinical testing The p.Leu146fs variant in ELN has been identified by our laboratory in 1 individ ual with SVAS as well as 1 affected family member. It was absent from large pop ulation studies. This variant is predicted to alter the protein?s amino acid seq uence beginning at position 146 and lead to a premature termination codon 37 ami no acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Pathogenic truncating variant in the ELN gene are common in ind ividuals with SVAS (Human Gene Mutation Database, HGMD and LMM, unpublished data ). In summary, this variant meets our criteria to be classified as pathogenic fo r SVAS in an autosomal dominant manner based upon absence from controls and the predicted impact to the protein.

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