ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) (rs200573371)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185715 SCV000238639 pathogenic not provided 2014-07-10 criteria provided, single submitter clinical testing The G294E missense mutation identified in the ACADVL gene has been reported previously in association with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (Andresen et al., 1996). The variant is found in UCD-MET panel(s).
Invitae RCV000530883 SCV000654973 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-03-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 294 of the ACADVL protein (p.Gly294Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs200573371, ExAC 0.002%). This variant has been observed in combination with another ACADVL variant several individuals affected with VLCAD deficiency (PMID: 8739957, 17999356, 12208138). ClinVar contains an entry for this variant (Variation ID: 203575). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function that has been reported in affected individuals. However, in the absence of confirmed segregation or functional studies, at this time this change has been classified as a Variant of Uncertain Significance.
Counsyl RCV000530883 SCV000800650 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-01-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000185715 SCV000884957 likely pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000185715 SCV001246298 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000530883 SCV001365224 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.881G>A (NP_000009.1:p.Gly294Glu) [GRCH38: NC_000017.11:g.7222669G>A] variant in ACADVL gene is interpretated to be Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PS3, PP3. PP4

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