ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)

dbSNP: rs199621188
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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 RCV001036361 SCV001199721 pathogenic Supravalvar aortic stenosis 2023-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr383*) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ELN-related conditions. ClinVar contains an entry for this variant (Variation ID: 835472). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002489542 SCV002800821 likely pathogenic Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 2022-03-09 criteria provided, single submitter clinical testing

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