ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs)

dbSNP: rs2071371983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen RCV001200785 SCV003936870 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-06-29 reviewed by expert panel curation The c.1534_1535del (p.Arg512GlyfsTer49) variant in ACADVL is a frameshift variant predicted to cause a premature stop codon in biologically-relevant-exon 17/20 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 2.1.1 (PM2_Supporting). To our knowledge, functional assays have not been reported for this variant. To our knowledge, this variant has not 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 (ClinGen ACADVL VCEP specifications version#1.0; approved 12-29-22).
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200785 SCV001364982 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1534_1535delCG (NP_000009.1:p.Arg512GlyfsTer49) [GRCH38: NC_000017.11:g.7224322_7224323del] 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

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