ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.171del (p.Pro58fs) (rs1554666513)

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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 RCV000601198 SCV000712293 pathogenic Supravalvar aortic stenosis 2016-07-06 criteria provided, single submitter clinical testing The p.Pro58fs variant in ELN has not been previously reported in individuals wit h congenital heart disease or in large population studies. This variant is predi cted to cause a frameshift, which alters the protein?s amino acid sequence begin ning at position 58 and leads to a premature termination codon 64 amino acids do wnstream. This alteration is then predicted to lead to a truncated or absent pro tein. Heterozygous loss of function of the ELN gene is an established disease me chanism in SVAS. In summary, the p.Pro58fs variant meets our criteria to be clas sified as pathogenic for SVAS in an autosomal dominant manner (http://pcpgm.part

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