Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Molecular Genetics, |
RCV000005228 | SCV001548144 | likely pathogenic | Stargardt disease 3 | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002512800 | SCV003439474 | pathogenic | not provided | 2023-06-16 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 4941). This premature translational stop signal has been observed in individual(s) with clinical features of Stargardt-like macular degeneration (PMID: 15557430, 27116512, 34073554). It has also been observed to segregate with disease in related individuals. This sequence change creates a premature translational stop signal (p.Tyr270*) in the ELOVL4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 45 amino acid(s) of the ELOVL4 protein. |
OMIM | RCV000005228 | SCV000025406 | pathogenic | Stargardt disease 3 | 2004-12-01 | no assertion criteria provided | literature only |