ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.278del (p.Pro93fs)

dbSNP: rs1791508570
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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 RCV001241642 SCV001414673 pathogenic Supravalvar aortic stenosis 2023-07-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 966863). This variant has not been reported in the literature in individuals affected with ELN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro93Leufs*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).

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