ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.889+2T>C (rs727504419)

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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 RCV000154614 SCV000204287 pathogenic Supravalvar aortic stenosis 2011-06-16 criteria provided, single submitter clinical testing The 889+2T>C variant has not been reported in the literature nor previously iden tified by our laboratory. However, the 889+2T>C variant is predicted to cause ab normal splicing because the nucleotide substitution occurs in the highly conserv ed splice consensus sequence. Splice-site alterations are a reported cause of SV AS in the ELN gene (Human Genome Mutation Database, HGMD). In summary, this vari ant is highly likely to be pathogenic.

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