ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu)

dbSNP: rs1451455641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706755 SCV000835824 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-05-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 423 of the ACADVL protein (p.Ser423Leu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with C14:1 level fluctuated between normal and mild elevations (PMID: 26385305). ClinVar contains an entry for this variant (Variation ID: 582635). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV000706755 SCV001365094 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1268C>T (NP_000009.1:p.Ser423Leu) [GRCH38: NC_000017.11:g.7223729C>T] 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
Revvity Omics, Revvity RCV000706755 SCV003822483 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-07-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000706755 SCV002088787 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-04-14 no assertion criteria provided clinical testing

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