Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003168603 | SCV003853579 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-03-27 | reviewed by expert panel | curation | The NM_000018.4(ACADVL): c.1730_1740del (p.Ala577Glyfs*11) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 18 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: PVS1, PM2_Supporting. |
Gene |
RCV000413684 | SCV000492019 | pathogenic | not provided | 2016-11-23 | criteria provided, single submitter | clinical testing | The c.1730_1740del11 pathogenic variant in the ACADVL gene causes a frameshift starting with codon Alanine 577, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Ala577GlyfsX11. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is predicted to be a pathogenic variant. |