Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556872 | SCV000632505 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2021-01-14 | 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. This variant has been observed in individual(s) with clinical features of short-chain acyl-coenzyme A dehydrogenase deficiency (Invitae). ClinVar contains an entry for this variant (Variation ID: 460387). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 127 of the ACADS protein (p.Ile127Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. |