Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001200670 | SCV002538674 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2024-02-27 | reviewed by expert panel | curation | The NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter) variant in ACADVL is a nonsense variant predicted to cause a premature stop codon in biologically relevant exon 3/20 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). To our knowledge, functional assays have not been reported for this variant nor has the variant been reported in the literature in any individuals with VLCADD. 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 (ACADVL VCEP specifications version 1; approved November 9, 2021). This variant was originally curated November 9, 2021 and the recurated classification was approved by the expert panel on February 27, 2024. |
Wong Mito Lab, |
RCV001200670 | SCV001364950 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.155C>G (NP_000009.1:p.Ser52Ter) [GRCH38: NC_000017.11:g.7220480C>G] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3 |