Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652035 | SCV000773896 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change affects codon 359 of the ACADVL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ACADVL protein. This variant also falls at the last nucleotide of exon 10, which is part of the consensus splice site for this exon. This variant is present in population databases (rs779458466, gnomAD 0.006%). This variant has been observed in individual(s) with VLCADD and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (PMID: 26385305, 27246109; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 541717). 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 may create or strengthen a splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Counsyl | RCV000652035 | SCV000800050 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2018-05-18 | criteria provided, single submitter | clinical testing | |
Suma Genomics | RCV000652035 | SCV002097339 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV000652035 | SCV004217002 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-05-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000652035 | SCV002088776 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2021-03-02 | no assertion criteria provided | clinical testing |