ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) (rs776063244)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507714 SCV000602369 likely pathogenic not specified 2017-01-05 criteria provided, single submitter clinical testing
Invitae RCV000558671 SCV000654918 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 368 of the ACADVL protein (p.Gln368Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is present in population databases (rs776063244, ExAC 0.001%). This variant has been observed in individual(s) with VLCAD deficiency (PMID: 31031081). ClinVar contains an entry for this variant (Variation ID: 439360). 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, 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726785 SCV000703007 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing
Counsyl RCV000558671 SCV000791058 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-04-24 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000558671 SCV000891175 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-03-13 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000558671 SCV001365226 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1103A>C (NP_000009.1:p.Gln368Pro) [GRCH38: NC_000017.11:g.7223158A>C] 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, PM1, PP3

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