ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1183-15A>G

gnomAD frequency: 0.00001  dbSNP: rs765390290
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506806 SCV000602382 likely pathogenic not specified 2017-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668926 SCV001380213 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-08-07 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the ACADVL gene. It does not directly change the encoded amino acid sequence of the ACADVL protein. This variant is present in population databases (rs765390290, ExAC 0.01%). This variant has been observed in an individual affected with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 9973285). ClinVar contains an entry for this variant (Variation ID: 439363). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 9973285). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV001570475 SCV001794774 pathogenic not provided 2020-09-21 criteria provided, single submitter clinical testing Published functional studies demonstrate c.1183-15 A>G results in severely decreased normal sized VLCAD mRNA and no residual enzyme activity by Northern blot (Andresen et al., 1999); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32061778, 9973285)
Counsyl RCV000668926 SCV000793604 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-08-25 no assertion criteria provided clinical testing

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