Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV001200722 | SCV001365136 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.1858G>A (NP_000009.1:p.Ala620Thr) [GRCH38: NC_000017.11:g.7224987G>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: BP4 |
Invitae | RCV001200722 | SCV001562350 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2022-09-13 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 620 of the ACADVL protein (p.Ala620Thr). This variant is present in population databases (no rsID available, 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: 932781). 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. |
Ambry Genetics | RCV003293989 | SCV003990105 | uncertain significance | Inborn genetic diseases | 2023-06-12 | criteria provided, single submitter | clinical testing | The c.1858G>A (p.A620T) alteration is located in exon 20 (coding exon 20) of the ACADVL gene. This alteration results from a G to A substitution at nucleotide position 1858, causing the alanine (A) at amino acid position 620 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001200722 | SCV002088823 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2020-05-05 | no assertion criteria provided | clinical testing |