Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Wong Mito Lab, |
RCV001200840 | SCV001365140 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.294_297del4 (NP_000009.1:p.Gln98HisfsTer18) [GRCH38: NC_000017.11:g.7220782_7220785del] variant in ACADVL gene is interpretated to be Likely pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PM1 |
Invitae | RCV001200840 | SCV003443754 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2022-08-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 932876). This premature translational stop signal has been observed in individual(s) with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 27209629). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln98Hisfs*18) 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). |