Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489467 | SCV000577763 | likely pathogenic | not provided | 2021-10-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31418342, 31589614, 34064479, 31904027) |
Mendelics | RCV000987487 | SCV001136787 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000987487 | SCV002783427 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2021-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000987487 | SCV003467360 | uncertain significance | Multiple acyl-CoA dehydrogenase deficiency | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 155 of the ETFDH protein (p.Arg155Gly). This variant is present in population databases (rs549150456, gnomAD 0.003%). This missense change has been observed in individuals with multiple Acyl-CoA dehydrogenase deficiency (PMID: 31418342, 31904027). ClinVar contains an entry for this variant (Variation ID: 427131). 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 not expected to disrupt ETFDH protein function with a negative predictive value of 80%. 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 | RCV000987487 | SCV004194860 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2023-02-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000987487 | SCV001452019 | likely pathogenic | Multiple acyl-CoA dehydrogenase deficiency | 2020-09-16 | no assertion criteria provided | clinical testing |