ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) (rs1060499596)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000477936 SCV001364936 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1593dupG (NP_000009.1:p.Ser532GlufsTer30) [GRCH38: NC_000017.11:g.7224381dupG] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 26385305. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477936 SCV000536845 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2015-05-09 no assertion criteria provided research

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