ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.63-35G>A

gnomAD frequency: 0.00053  dbSNP: rs774905326
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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 RCV001001403 SCV002576758 benign Very long chain acyl-CoA dehydrogenase deficiency 2022-03-08 reviewed by expert panel curation The c.63-35G>A variant in ACADVL is an intronic variant which occurs in intron 1. The highest population minor allele frequency in gnomAD v2.1.1 is 0.02152 in the Latino/Admixed American population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.007) for BA1, and therefore meets this criterion (BA1). The results from 2 in silico splicing predictors (SpliceAI, NNSplice) support that this variant does not affect splicing (BP4). In summary, this variant meets the criteria to be classified as benign 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: BA1, BP4 (VCEP specifications v2.0, approved on 09/16/2021).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001403 SCV001158612 benign Very long chain acyl-CoA dehydrogenase deficiency 2018-09-04 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001001403 SCV001365149 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.63-35G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7220087G>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant dose not meet any evidence codes reported in the ACMG guidelines.

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