ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1208del (p.Gly403fs) (rs727504433)

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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 RCV000154672 SCV000204350 pathogenic Supravalvar aortic stenosis 2012-03-02 criteria provided, single submitter clinical testing The Gly403fs variant (ELN) has not been reported in the literature nor previousl y identified by our laboratory. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at position 403 and le ads to a premature termination codon 71 amino acids downstream. This alteration is predicted to lead to a truncated or absent protein and therefore to a heteroz ygous loss of function of the Elastin (ELN) gene. Loss of function of the ELN ge ne is an established mechanism of disease in SVAS (Human Gene Mutation Database, HGMD). In summary, the Gly403fs variant meets out pathogenicity criteria (http: //pcpgm.partners.org/lmm).

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