ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)

dbSNP: rs2071253904
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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 RCV001200675 SCV004037590 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-09-26 reviewed by expert panel curation The c.668C>G ( p.Ser223Ter)(NM_000018.4) variant in ACADVL is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 8/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124). At least one individual with this variant was identified by newborn screen, but this information is insufficient to use toward classification (PMID: 26385305). 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_Suporting (ACADVL VCEP specifications version 1; approved November 9, 2021).
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200675 SCV001364963 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.668C>G (NP_000009.1:p.Ser223Ter) [GRCH38: NC_000017.11:g.7221997C>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

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