ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.477+17G>A

dbSNP: rs375076326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen RCV001200851 SCV002576789 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2023-04-11 reviewed by expert panel curation The c.477+17G>A variant in ACADVL is an intronic variant which occurs in intron 6. The highest population minor allele frequency in gnomAD v2.1.1 is 0.00006 in the African population, which is lower than the ClinGen ACADVL Variant Curation Expert Panel threshold (<0.001) for PM2_Supporting, meeting this criterion (PM2_Supporting). The computational splicing predictor SpliceAI gives a score of 0 for donor loss suggesting that the variant has no impact on splicing (BP4). In summary, this variant meets the criteria to be classified as a variant of uncertain significance 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: PM2_Supporting, BP4 (VCEP specifications v2.0, approved on 09/16/2021). This variant was originally curated March 8, 2022 and the recurated classification was approved by the expert panel on April 11, 2023.
GeneDx RCV000429679 SCV000527848 likely benign not specified 2016-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200851 SCV001365155 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.477+17G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7221075G>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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001200851 SCV002323032 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2025-01-01 criteria provided, single submitter clinical testing

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