ClinVar Miner

Submissions for variant NM_014384.3(ACAD8):c.1092+3_1092+6del

dbSNP: rs780925587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000294708 SCV000338908 uncertain significance not provided 2016-01-07 criteria provided, single submitter clinical testing
Invitae RCV001299546 SCV001488642 uncertain significance Deficiency of isobutyryl-CoA dehydrogenase 2020-05-13 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within 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 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 ACAD8-related conditions. This variant is present in population databases (rs780925587, ExAC 0.002%). This sequence change falls in intron 9 of the ACAD8 gene. It does not directly change the encoded amino acid sequence of the ACAD8 protein, but it affects a nucleotide within the consensus splice site of the intron.

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