ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) (rs727503034)

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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 RCV000150645 SCV000197982 likely pathogenic Supravalvar aortic stenosis 2010-10-22 criteria provided, single submitter clinical testing The 1858G>T (Gly620X) variant has not been previously reported and is expected t o lead to heterozygous loss of function of the Elastin (ELN) gene by one or both of the following mechanisms. It creates a premature stop codon at position 620, which is predicted to lead to either truncated or absent protein (loss of funct ion). In addition, the 1858G>T variant affects the last base of exon 27, which i s part of the splicing consensus sequence and four computational tools predict t hat it severely affects splicing. Loss of function is an established mechanism of disease for the ELN gene (Human Genome Mutation Database, HGMD), which makes it highly likely that the 1858G>T variant is pathogenic.

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