ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.862dup (p.Ala288fs) (rs727503028)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150637 SCV000197972 pathogenic Supravalvar aortic stenosis 2012-08-07 criteria provided, single submitter clinical testing The Ala288fs variant in ELN has not been previously reported in the literature n or previously identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 288 and lead t o a premature termination codon 25 amino acids downstream. This alteration is th en predicted to lead to a truncated or absent protein. Loss of function of the ELN gene is an established mechanism of disease in SVAS (Human Gene Mutation Dat abase, HGMD). In summary, the Ala288fs variant meets our criteria for pathogenic ity (
GeneDx RCV000199371 SCV000250055 pathogenic not provided 2014-06-25 criteria provided, single submitter clinical testing The c.862dupG mutation in the ELN gene causes a frameshift starting with codon Alanine 288, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Ala288GlyfsX25. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This mutation has not been previously reported to our knowledge. This variant was found in ELN

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