Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001928524 | SCV002183755 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2021-02-03 | 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 ACADVL-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe214Valfs*2) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). |
| Breakthrough Genomics, |
RCV001928524 | SCV005088873 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2021-01-23 | criteria provided, single submitter | clinical testing | This variant is predicted to cause a frameshift and consequent premature termination of the protein (p. Phe214ValfsTer2) and the resultant protein will likely to lack catalytic, substrate binding and membrane-anchoring regions [UniProt] of the protein; this will likely result in loss-of-function. Due to the introduction of a premature stop codon, this aberrant transcript will likely be targeted by the nonsense-mediated mRNA decay (NMD) mechanism [PMID: 15040442]. The variant seems to be a novel variant, as it has not been previously reported in population databases or in the literature. However in the ClinVar database, several other truncating variants lying downstream of the identified variant have been previously reported as ‘pathogenic’ in the context of very long chain acyl-CoA dehydrogenase deficiency. |