Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000077910 | SCV000109739 | uncertain significance | not provided | 2013-05-24 | criteria provided, single submitter | clinical testing | |
Wong Mito Lab, |
RCV001200766 | SCV001365122 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.1711G>A (NP_000009.1:p.Gly571Arg) [GRCH38: NC_000017.11:g.7224674G>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: PM3 |
Gene |
RCV000077910 | SCV001988969 | uncertain significance | not provided | 2021-01-05 | criteria provided, single submitter | clinical testing | Reported in individuals with abnormal newborn screening results suggesting VLCAD deficiency. One individual also had a second pathogenic variant in ACADVL but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Miller et al., 2015; Evans et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26385305, 27246109) |
Invitae | RCV001200766 | SCV002133787 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2022-08-05 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 571 of the ACADVL protein (p.Gly571Arg). This variant is present in population databases (rs398123085, gnomAD 0.007%). This missense change has been observed in individual(s) with a positive newborn screening result for ACADVL-related disease (PMID: 27246109). ClinVar contains an entry for this variant (Variation ID: 92279). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACADVL protein function. 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. |
Baylor Genetics | RCV001200766 | SCV004216991 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-05-26 | criteria provided, single submitter | clinical testing |