Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003164885 | SCV003853581 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-02-13 | reviewed by expert panel | curation | The c.335dup (p.Phe113LeufsTer11) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 5/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124). The variant, to our knowledge, is not reported in the medical literature. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on PVS1+PM2_supporting (ACADVL VCEP specifications version 1; approved November 8, 2021). |