ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.879-50G>T

gnomAD frequency: 0.00481  dbSNP: rs11870841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen RCV001200795 SCV003936883 benign Very long chain acyl-CoA dehydrogenase deficiency 2023-04-25 reviewed by expert panel curation The c.879-50G>T variant in ACADVL is an intronic variant in intron 9. The highest population minor allele frequency in gnomAD v2.1.1 is 0.06975 (6.975%) in the African/African American population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (>=0.007) for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as benign for autosomal recessive VLCAD deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: BA1 (ACADVL VCEP specifications version 1; approved November 8, 2021).
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200795 SCV001365180 benign Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.879-50G>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7222617G>T] variant in ACADVL gene is interpretated to be Benign based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BS1, BS2
GeneDx RCV001683751 SCV001900465 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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