Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652043 | SCV000773908 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2023-04-28 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with abnormal newborn screening results suggestive of very long chain acyl-coA dehydrogenase deficiency (PMID: 26385305). 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. 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. ClinVar contains an entry for this variant (Variation ID: 541723). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 214 of the ACADVL protein (p.Phe214Val). |
Counsyl | RCV000652043 | SCV000800414 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2018-06-07 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000734877 | SCV000863055 | uncertain significance | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Wong Mito Lab, |
RCV000652043 | SCV001365222 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.640T>G (NP_000009.1:p.Phe214Val) [GRCH38: NC_000017.11:g.7221969T>G] variant in ACADVL gene is interpretated to be Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PS3, PM1, PM2, PP3 |
Gene |
RCV000734877 | SCV001813840 | uncertain significance | not provided | 2020-09-25 | criteria provided, single submitter | clinical testing | Observed as heterozygous in 5 individuals identified by newborn screening; detailed clinical information and information about the presence of a second variant in ACADVL was not reported (Miller et al., 2015); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26385305) |