ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys)

gnomAD frequency: 0.00045  dbSNP: rs139427392
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703241 SCV000832133 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2025-01-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 96 of the ACADVL protein (p.Glu96Lys). This variant is present in population databases (rs139427392, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. ClinVar contains an entry for this variant (Variation ID: 579856). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ACADVL protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000703241 SCV001365190 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.286G>A (NP_000009.1:p.Glu96Lys) [GRCH38: NC_000017.11:g.7220774G>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BP4
Mayo Clinic Laboratories, Mayo Clinic RCV001508429 SCV001714576 uncertain significance not provided 2020-02-11 criteria provided, single submitter clinical testing
GeneDx RCV001508429 SCV001773200 uncertain significance not provided 2024-12-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Natera, Inc. RCV000703241 SCV002088745 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-10-28 no assertion criteria provided clinical testing

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