ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1679-6G>A (rs113994171)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000031857 SCV000221101 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2015-01-29 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000031857 SCV000894150 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000185730 SCV000238656 pathogenic not provided 2018-01-11 criteria provided, single submitter clinical testing The c.1679-6 G>A variant in the ACADVL gene has been reported previously in association with verylong chain acyl-CoA dehydrogenase (VLCAD) deficiency (Andresen et al., 1996; Cox et al., 1998).The c.1679-6 G>A variant resulted in no detectable mRNA by Northern blot analysis and barelydetectable mRNA by RT-PCR (Andresen et al., 1996). The c.1679-6 G>A variant is not observed at asignificant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al.,2015; Exome Variant Server). In summary, we interpret c.1679-6 G>A as pathogenic.
GeneReviews RCV000031857 SCV000054463 pathologic Very long chain acyl-CoA dehydrogenase deficiency 2011-09-22 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000031857 SCV000654941 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-09-04 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the ACADVL gene. It does not directly change the encoded amino acid sequence of the ACADVL protein. This variant is present in population databases (rs113994171, ExAC 0.1%). This variant has been reported as homozygous or in combination with other pathogenic ACADVL variants in individuals affected with very long chain acyl-CoA dehydrogenase deficiency (PMID: 9709714, 23480858, 9973285). ClinVar contains an entry for this variant (Variation ID: 21019). 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. For these reasons, this variant has been classified as Pathogenic.

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