ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.166del (p.Leu56fs)

dbSNP: rs2131266202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001949455 SCV002245997 pathogenic Supravalvar aortic stenosis 2022-03-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ELN-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu56Trpfs*66) in the ELN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELN are known to be pathogenic (PMID: 11175284).
Fulgent Genetics, Fulgent Genetics RCV002484807 SCV002782806 likely pathogenic Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 2022-02-22 criteria provided, single submitter clinical testing

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