Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000497900 | SCV000589781 | likely pathogenic | not provided | 2016-03-04 | criteria provided, single submitter | clinical testing | The A110T variant has been reported in symptomatic patients without further details given (Gregersen et al., 2008). The A110T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (I105N, R107C, R107G, R107H, G108D and S111F) have been reported in the Human Gene Mutation Database in association with SCAD deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
| Labcorp Genetics |
RCV000671132 | SCV001391211 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2022-09-19 | 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 110 of the ACADS protein (p.Ala110Thr). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 432099). This variant has not been reported in the literature in individuals affected with ACADS-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. |
| Genome- |
RCV000671132 | SCV002033238 | likely pathogenic | Deficiency of butyryl-CoA dehydrogenase | 2021-11-07 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000671132 | SCV000796078 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2017-12-07 | no assertion criteria provided | clinical testing |