Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001779476 | SCV002014935 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2021-10-17 | criteria provided, single submitter | clinical testing | Variant summary: ACADVL c.335delT (p.Phe112SerfsX5) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251320 control chromosomes (gnomAD). To our knowledge, no occurrence of c.335delT in individuals affected with Very Long Chain Acyl-CoA Dehydrogenase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV001779476 | SCV003443732 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2024-10-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Phe112Serfs*5) 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). This variant is present in population databases (rs764028320, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ACADVL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1321382). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV001779476 | SCV004216024 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2022-10-15 | criteria provided, single submitter | clinical testing |