Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664602 | SCV000788595 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664602 | SCV002179792 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2022-02-03 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 549997). This missense change has been observed in individual(s) with short chain acyl-CoA dehydrogenase deficiency (PMID: 27466294, 27938594). This variant is present in population databases (rs755247580, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 228 of the ACADS protein (p.Glu228Lys). |