ClinVar Miner

Submissions for variant NM_000501.3(ELN):c.1153del (p.Ala385Profs) (rs727503031)

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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 RCV000150640 SCV000197975 likely pathogenic Supravalvar aortic stenosis 2011-09-28 criteria provided, single submitter clinical testing The Ala385fs variant has not been reported in the literature nor previously iden tified by our laboratory. However, this variant is predicted to cause a frameshi ft, which alters the protein's amino acid sequence beginning at codon 385 and le ads to a premature stop codon 89 amino acids downstream. This alteration is pred icted to lead to a truncated or absent protein and therefore, to a heterozygous loss of function of the elastin (ELN) gene. Loss of function variants in ELN are an established mechanism of disease in SVAS (Human Gene Mutation Database, HGMD ), which is consistent with this individual?s clinical features. In summary, the Ala385fs variant is likely to be pathogenic.

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