Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000018215 | SCV003440060 | pathogenic | Supravalvar aortic stenosis | 2022-06-13 | 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: 16731). This premature translational stop signal has been observed in individual(s) with supravalvular aortic stenosis (PMID: 11175284). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr150*) 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). |
OMIM | RCV000018215 | SCV000038494 | pathogenic | Supravalvar aortic stenosis | 2000-12-01 | no assertion criteria provided | literature only |