Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671086 | SCV000796028 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2017-11-30 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000671086 | SCV003442013 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2022-05-03 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 555291). 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. 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 ACADS protein function. This missense change has been observed in individual(s) with ACADS-related conditions (PMID: 28263315). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 356 of the ACADS protein (p.Ala356Thr). |