ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.741del (p.Thr248fs) (rs727503026)

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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 RCV000150635 SCV000197970 likely pathogenic Supravalvar aortic stenosis 2011-05-27 criteria provided, single submitter clinical testing The Thr248fs variant has not been reported in the literature nor previously been identified by our laboratory. However, it is predicted to cause a frameshift, w hich alters the protein's amino acid sequence beginning at codon 248 and leads t o a premature stop codon 75 amino acids downstream. This alteration is predicted to lead to a truncated or absent protein and therefore to a heterozygous loss o f function of the Elastin (ELN) gene. Loss of function variants in ELN are an es tablished mechanism of disease in SVAS (Human Gene Mutation Database, HGMD). In summary, the Thr248fs variant is likely to be pathogenic.

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