ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.43dup (p.Leu15fs) (rs727503022)

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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 RCV000150631 SCV000197965 pathogenic Supravalvar aortic stenosis 2012-03-02 criteria provided, single submitter clinical testing The Leu15fs variant (ELN) has not been reported in the literature nor previously identified by our laboratory. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 15 and lead s to a premature termination codon 50 amino acids downstream. This alteration i s predicted to lead to a truncated or absent protein and therefore to a heterozy gous loss of function of the Elastin (ELN) gene. Loss of function variants in EL N are an established mechanism of disease in SVAS (Human Gene Mutation Database, HGMD). In summary, the Leu15fs variant meets out pathogenicity criteria (http:/ /

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