Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000671543 | SCV000796528 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2017-12-28 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000671543 | SCV002158181 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the ACADVL gene. It does not directly change the encoded amino acid sequence of the ACADVL protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 555679). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002531288 | SCV003583448 | uncertain significance | Inborn genetic diseases | 2021-10-13 | criteria provided, single submitter | clinical testing | The c.139-3C>T intronic alteration consists of a C to T substitution 3 nucleotides before exon 3 of the ACADVL gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |