ClinVar Miner

Submissions for variant NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs)

dbSNP: rs1131690770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070892 SCV001236171 pathogenic not provided 2024-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn264Leufs*9) in the ELOVL4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the ELOVL4 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant Stargardt disease (PMID: 11138005). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4939). Algorithms developed to predict the effect of variants on gene product structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects ELOVL4 function (PMID: 23509295, 24833735). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074586 SCV001240177 pathogenic Retinal dystrophy 2019-01-08 criteria provided, single submitter clinical testing
OMIM RCV000005226 SCV000025404 pathogenic Stargardt disease 3 2004-04-01 no assertion criteria provided literature only

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