Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227691 | SCV001400060 | uncertain significance | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2019-09-18 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with ACADM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 359 of the ACADM protein (p.Ala359Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. |