Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673078 | SCV000798246 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2018-03-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673078 | SCV001207959 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2019-03-19 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in an individual affected with short-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 22424739). ClinVar contains an entry for this variant (Variation ID: 203559). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 353 of the ACADS protein (p.Ser353Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. |
Genome- |
RCV000673078 | SCV002033272 | uncertain significance | Deficiency of butyryl-CoA dehydrogenase | 2021-11-07 | criteria provided, single submitter | clinical testing |