ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.63-2A>C (rs1555527513)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531909 SCV000654959 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-06-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the ACADVL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in newborn screening positive individuals (PMID: 26385305, Invitae), and in combination with another ACADVL variant in an individual affected with VLCAD deficiency (PMID: 27209629). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 24801231). 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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000531909 SCV001364945 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.63-2A>C (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7220120A>C] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3
Natera, Inc. RCV000531909 SCV001455118 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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