Total submissions: 4
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, |
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, |
RCV000706755 | SCV003822483 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2022-07-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000706755 | SCV002088787 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2021-04-14 | no assertion criteria provided | clinical testing |