Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002286684 | SCV002576750 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2022-09-23 | reviewed by expert panel | curation | The c.342+1G>A variant in ACADVL is a splice site variant affecting the canonical donor splice site in intron 5. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present at low frequency (<0.1%) in population databases (ExAC). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site (Splice AI). This variant has not been reported in the literature either in functional studies or in patients with VLCAD and there is no entry in ClinVar. This variant is classified as Likely Pathogenic based on ACADVL-specific ACMG/AMP criteria PVS1 and PM2. |