ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1097-1G>A (rs727503029)

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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 RCV000150638 SCV000197973 pathogenic Supravalvar aortic stenosis 2013-11-29 criteria provided, single submitter clinical testing The 1097-1G>A variant in ELN has not been reported in individuals with SVAS or i n large population studies. This variant occurs in the invariant region (+/- 1,2 ) of the splice consensus sequence and is predicted to cause altered splicing le ading to an abnormal or absent protein. Splice site alterations in ELN are an es tablished cause of SVAS (Human Gene Mutation Database, HGMD). In summary, the 10 97-1G>A variant meets our criteria for pathogenicity (http://pcpgm.partners.org/ lmm) based on the predicted impact of the variant.

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