ClinVar Miner

Submissions for variant NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)

dbSNP: rs104893946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Molecular Genetics, University of Zurich 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

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