ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001691 SCV000220752 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2014-09-30 criteria provided, single submitter literature only
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

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