ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.889+1G>A (rs782238674)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479896 SCV000564966 likely pathogenic not provided 2016-05-04 criteria provided, single submitter clinical testing The c.889+1 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.889+1 G>A splice site variant in the ELN gene destroys the canonical splice donor site in intron 16. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Nevertheless, other splice site variants have been reported in the ELN gene in association with supravalvular aortic stenosis (Stenson et al., 2014). Furthermore, the c.889+1 G>A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded

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