ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.65_69dup (p.Ser24fs)

dbSNP: rs1787875866
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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 RCV001056671 SCV001221125 pathogenic Supravalvar aortic stenosis 2019-03-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser24Thrfs*100) 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 not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ELN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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