ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.47-6C>A

dbSNP: rs749023748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665809 SCV000789988 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV000665809 SCV003442108 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2023-10-09 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the ACADS gene. It does not directly change the encoded amino acid sequence of the ACADS protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has been observed in individual(s) with clinical features of short chain acyl-CoA dehydrogenase (SCAD) deficiency (PMID: 16926354). This variant is also known as IVS1-6C>A. ClinVar contains an entry for this variant (Variation ID: 550915). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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