ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1973del (p.Pro658fs)

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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 RCV002513096 SCV003440061 pathogenic Supravalvar aortic stenosis 2022-07-30 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with autosomal dominant cutis laxa (PMID: 9873040, 16085695). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro720Glnfs*29) 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). This variant is also known as 2039delC. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018212 SCV000038491 pathogenic Cutis laxa, autosomal dominant 1 1995-03-01 no assertion criteria provided literature only

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