Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000195493 | SCV000250056 | pathogenic | not provided | 2014-05-13 | criteria provided, single submitter | clinical testing | The c.1101delT mutation in the ELN gene causes a frameshift starting with codon Valine 368, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 106 of the new reading frame, denoted p.Val368CysfsX106. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This mutation has not been previously reported to our knowledge. This variant was found in ELN |
Invitae | RCV001067633 | SCV001232702 | pathogenic | Supravalvar aortic stenosis | 2023-08-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val368Cysfs*96) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 213187). 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). |