ClinVar Miner

Submissions for variant NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs) (rs387906249)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000077915 SCV000231447 pathogenic not provided 2013-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000077915 SCV000576837 pathogenic not provided 2018-09-12 criteria provided, single submitter clinical testing The c.343delG variant in the ACADVL gene has been reported previously in association with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (Strauss et al., 1995; Ndukwe et al., 2013; Evans et al., 2016). The c.343delG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.343delG variant causes a frameshift starting with codon Glutamic Acid 115, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Glu115LysfsX2. The c.343delG variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret c.343delG as pathogenic.
Invitae RCV000001691 SCV000773901 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu115Lysfs*2) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs387906250, ExAC 0.002%). This variant has been reported in combination with another ACADVL variant in two individuals affected with very long chain acyl-CoA dehydrogenase (PMID: 27246109, 23867825). ClinVar contains an entry for this variant (Variation ID: 1624). Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001691 SCV000021847 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 1995-11-07 no assertion criteria provided literature only
Counsyl RCV000001691 SCV000220752 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2015-10-09 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.