ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1744del (p.Ala582fs)

dbSNP: rs727503783
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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, Mass General Brigham Personalized Medicine RCV000150643 SCV000197980 pathogenic Supravalvar aortic stenosis 2011-07-28 criteria provided, single submitter clinical testing The Ala582fs variant in ELN has not been reported in the literature nor previous ly been identified by our laboratory. This variant results in a frameshift begin ning at position 582. Two ELN mRNAs have been reported for this position and the Ala582fs variant creates a premature stop in both (31 amino acids downstream: N M_000501.2; 64 amino acids downstream: Tassabehji 1997). A premature stop codon at this position typically leads to mRNA degradation and therefore a heterozygou s loss of function, which is an established mechanism of disease for the ELN gen e (Human Gene Mutation Database, HGMD). Parental studies demonstrated de novo oc currence, which strongly supports a disease causing role.

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