ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.890-2A>G (rs727504434)

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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 RCV000154673 SCV000204351 pathogenic Supravalvar aortic stenosis 2012-03-02 criteria provided, single submitter clinical testing The 890-2A>G variant (ELN) has not been reported in the literature nor previousl y identified by our laboratory. This variant occurs in the invariant region (+/- 1, 2) of the splice consensus sequence and is predicted to cause altered splici ng leading to an abnormal or absent protein. Loss of function of the ELN gene is an established mechanism of disease in SVAS (Human Gene Mutation Database, HGMD ). In summary, the 890-2A>G variant meets out pathogenicity criteria (http://pcp gm.partners.org/lmm).

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