ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.139-1G>T

dbSNP: rs1597518019
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801039 SCV000940793 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-10-02 criteria provided, single submitter clinical testing 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, 11590124). 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. This variant has not been reported in the literature in individuals with ACADVL-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 2 of the ACADVL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. 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.
Baylor Genetics RCV000801039 SCV004212626 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-09-05 criteria provided, single submitter clinical testing

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