ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)

gnomAD frequency: 0.00001  dbSNP: rs398123086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000185732 SCV000109741 uncertain significance not provided 2015-03-23 criteria provided, single submitter clinical testing
Counsyl RCV000670696 SCV000795584 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-11-09 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000670696 SCV001365131 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1825G>A (NP_000009.1:p.Glu609Lys) [GRCH38: NC_000017.11:g.7224882G>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: PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV000670696 SCV001536507 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-03-27 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 609 of the ACADVL protein (p.Glu609Lys). This variant is present in population databases (rs398123086, gnomAD 0.003%). 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: 92281). 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 tolerated. 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.
Natera, Inc. RCV000670696 SCV002088818 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-03-26 no assertion criteria provided clinical testing

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