ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1918+1G>A (rs727503035)

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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 RCV000150646 SCV000197983 pathogenic Supravalvar aortic stenosis 2012-08-07 criteria provided, single submitter clinical testing The 1918+1G>A variant in ELN has not been reported in the literature nor previou sly identified by our laboratory. This variant occurs in the invariant region (+ /- 1, 2) of the splice consensus sequence and is predicted to cause altered spli cing 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, HG MD). In summary, 1918+1G>A variant meets out pathogenicity criteria (http://pcpg m.partners.org/lmm).

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