ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1605+3A>G

gnomAD frequency: 0.00001  dbSNP: rs759274087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200776 SCV001365212 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1605+3A>G (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7224396A>G] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines.
Invitae RCV001200776 SCV002178536 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the ACADVL gene. It does not directly change the encoded amino acid sequence of the ACADVL protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs759274087, ExAC 0.01%). This variant has been observed in individual(s) with a positive newborn screening result for ACADVL-related disease (Invitae). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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