ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1113dup (p.Ala372fs) (rs730880355)

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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 RCV000156058 SCV000205771 pathogenic Supravalvar aortic stenosis 2013-08-23 criteria provided, single submitter clinical testing The Ala372fs variant in ELN has not been previously reported in individuals with SVAS. This frameshift variant is predicted to alter the protein?s amino acid se quence beginning at position 372 and lead to a premature termination codon 4 ami no acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Truncating variants in ELN are an established cause of SVAS (Hu man Gene Mutation Database, HGMD). In summary, the Ala372fs variant meets our cr iteria for pathogenicity (http://pcpgm.partners.org/lmm) based on the predicted impact of the variant.

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