ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) (rs398123090)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723640 SCV000109750 uncertain significance not provided 2013-05-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000723640 SCV000602360 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200734 SCV001364895 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.605T>C (NP_000009.1:p.Leu202Pro) [GRCH38: NC_000017.11:g.7221665T>C] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 23480858. This variant meets the following evidence codes reported in the ACMG guidelines: PS1, PS3
Invitae RCV001200734 SCV001487425 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-03-26 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 202 of the ACADVL protein (p.Leu202Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs398123090, ExAC 0.002%). This variant has been observed in combination with another ACADVL variant in an individual affected with VLCAD deficiency (PMID: 30194637). ClinVar contains an entry for this variant (Variation ID: 92288). 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 and their clinical significance is uncertain. 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.
GeneDx RCV000723640 SCV001779462 uncertain significance not provided 2020-03-12 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30194637, 23480858)

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