ClinVar Miner

Submissions for variant NC_000007.13:g.(?_73471702)_(73483040_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384000 SCV001583347 pathogenic Supravalvar aortic stenosis 2020-02-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. The region of the ELN gene that includes exon(s) 34 has been determined to be clinically significant (PMID: 30228022). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. This variant has not been reported in the literature in individuals with ELN-related conditions. This variant is a gross deletion of the genomic region encompassing exons 22-34 of the ELN gene. The 5' boundary is likely confined to intron 21. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation.

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