Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035228 | SCV001198546 | pathogenic | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2020-12-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ACADM-related conditions. ClinVar contains an entry for this variant (Variation ID: 834525). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu325Glyfs*7) in the ACADM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADM are known to be pathogenic (PMID: 16121256, 20434380). |