ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) (rs139425622)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725179 SCV000334673 uncertain significance not provided 2015-08-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272698 SCV000406326 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000370922 SCV000602379 uncertain significance not specified 2017-04-01 criteria provided, single submitter clinical testing
Invitae RCV000272698 SCV000654938 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 523 of the ACADVL protein (p.Gly523Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs139425622, ExAC 0.09%). This variant has been observed in an individual affected with sudden infant death (PMID: 28747690). ClinVar contains an entry for this variant (Variation ID: 282928). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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