Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
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, |
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 |
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, |
RCV000670696 | SCV002088818 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2020-03-26 | no assertion criteria provided | clinical testing |