Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001043534 | SCV001207285 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2019-04-03 | criteria provided, single submitter | clinical testing | 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in an individual affected with short chain acyl-CoA dehydrogenase (SCAD) deficiency (Invitae). This variant is present in population databases (rs148789330, ExAC 0.01%). This sequence change replaces alanine with valine at codon 68 of the ACADS protein (p.Ala68Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. |
| Fulgent Genetics, |
RCV001043534 | SCV002791734 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2022-05-16 | criteria provided, single submitter | clinical testing |