ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000185715 SCV000884957 likely pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing
Counsyl RCV000530883 SCV000800650 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-01-05 criteria provided, single submitter clinical testing
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 2017-12-18 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 reported in two individuals affected with VLCAD deficiency. In one of them it co-occurred with a known deleterious ACADVL variant (phase unknown) and in the second individual it was the only variant described in the ACADVL gene (PMID: 8739957, 17999356). 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.

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