Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241261 | SCV001414267 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2022-10-31 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 196 of the ACADVL protein (p.Ala196Val). This variant is present in population databases (rs201370388, gnomAD 0.1%). 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: 966547). 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. |
Gene |
RCV001557654 | SCV001779451 | uncertain significance | not provided | 2021-06-20 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533) |
Ambry Genetics | RCV002357033 | SCV002652505 | uncertain significance | Inborn genetic diseases | 2021-09-26 | criteria provided, single submitter | clinical testing | The p.A196V variant (also known as c.587C>T), located in coding exon 7 of the ACADVL gene, results from a C to T substitution at nucleotide position 587. The alanine at codon 196 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001241261 | SCV002088756 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-11 | no assertion criteria provided | clinical testing |